EPD
MCID: EPL131
MIFTS: 49

Epilepsy, Pyridoxine-Dependent (EPD)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Pyridoxine-Dependent

MalaCards integrated aliases for Epilepsy, Pyridoxine-Dependent:

Name: Epilepsy, Pyridoxine-Dependent 56 25 13 39 71
Pyridoxine-Dependent Epilepsy 56 24 52 25 58 73 36 29 6
Vitamin B6-Dependent Seizures 24 52 25 58
Pyridoxine Dependency with Seizures 56 52 25
Pyridoxine Dependency 24 52 25
Pde 56 25 73
Aasa Dehydrogenase Deficiency 56 25
Pyridoxine-Dependent Seizures 24 25
Antiquitin Deficiency 52 58
Epd 56 25
Pyridoxine-Dependent Epilepsy; Pde 56

Characteristics:

Orphanet epidemiological data:

58
pyridoxine-dependent epilepsy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Infancy,Neonatal; Age of death: any age,normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
prenatal or neonatal onset
seizures are responsive to pyridoxine treatment
incidence of 1 in 276,000 in the netherlands


HPO:

31
epilepsy, pyridoxine-dependent:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM 56 266100
KEGG 36 H01247
MESH via Orphanet 44 C536254
ICD10 via Orphanet 33 G40.8
UMLS via Orphanet 72 C1291560 C1849508
Orphanet 58 ORPHA3006
MedGen 41 C1849508
UMLS 71 C1849508

Summaries for Epilepsy, Pyridoxine-Dependent

Genetics Home Reference : 25 Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode. In rare instances, children with this condition do not have seizures until they are 1 to 3 years old. Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur.

MalaCards based summary : Epilepsy, Pyridoxine-Dependent, also known as pyridoxine-dependent epilepsy, is related to visual epilepsy and epilepsy, and has symptoms including seizures and myoclonic seizures. An important gene associated with Epilepsy, Pyridoxine-Dependent is ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1), and among its related pathways/superpathways are Lysine degradation and beta-Alanine metabolism (KEGG). The drugs Valproic acid and Phenytoin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and kidney, and related phenotypes are intellectual disability and neurological speech impairment

NIH Rare Diseases : 52 Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This gene is inherited in an autosomal recessive fashion.

OMIM : 56 Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The dependence is permanent, and the interruption of daily pyridoxine supplementation leads to the recurrence of seizures. Some patients show developmental delay. The prevalence is estimated at 1 in 400,000 to 700,000 (Bennett et al., 2005). (266100)

KEGG : 36 Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive epileptic encephalopathy characterized by a therapeutic response to pharmacological dosages of pyridoxine hydrochloride (vitamin B6) and resistance to conventional antiepileptic treatment. Antiquitin (ATQ) deficiency is the main cause of PDE. Antiquitin is encoded by ALDH7A1 gene, and functions in the lysine degradation pathway. Its deficiency results in accumulation of alpha-aminoadipic semialdehyde (AASA), piperideine-6-carboxylate (P6C) and pipecolic acid, which serve as diagnostic markers in urine, plasma, and CSF.

UniProtKB/Swiss-Prot : 73 Pyridoxine-dependent epilepsy: Characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride.

Wikipedia : 74 Pyridoxine-dependent epilepsy (PDE) is a rare genetic disorder characterized by intractable seizures in... more...

GeneReviews: NBK1486

Related Diseases for Epilepsy, Pyridoxine-Dependent

Diseases related to Epilepsy, Pyridoxine-Dependent via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 178, show less)
# Related Disease Score Top Affiliating Genes
1 visual epilepsy 29.6 SLC13A5 ALDH7A1
2 epilepsy 29.2 PLPBP GAD1 ALDH7A1
3 striatal degeneration, autosomal dominant 1 11.3
4 cystathioninuria 11.2
5 postpartum depression 10.9
6 status epilepticus 10.5
7 impotence 10.5
8 depression 10.5
9 encephalopathy 10.5
10 severe combined immunodeficiency 10.4
11 seizure disorder 10.4
12 mental depression 10.4
13 west syndrome 10.3
14 hydrocephalus 10.3
15 major depressive disorder 10.3
16 mood disorder 10.3
17 hydrocephalus, congenital, 1 10.2
18 organic acidemia 10.2
19 sensory peripheral neuropathy 10.2
20 lactic acidosis 10.2
21 pyridoxine deficiency anemia 10.2
22 hypoglycemia 10.2
23 hypotonia 10.2
24 myoclonus 10.2
25 anxiety 10.2
26 pulmonary hypertension 10.2
27 sleeping sickness 10.2
28 retinitis pigmentosa 10.1
29 pulmonary disease, chronic obstructive 10.1
30 hepatitis c virus 10.1
31 neuroretinitis 10.1
32 heart disease 10.1
33 hepatitis c 10.1
34 retinitis 10.1
35 congestive heart failure 10.1
36 corpus callosum, agenesis of 10.1
37 enterocolitis 10.1
38 hypophosphatasia, infantile 10.1
39 abnormal hair, joint laxity, and developmental delay 10.1
40 yemenite deaf-blind hypopigmentation syndrome 10.1
41 glycine encephalopathy 10.1
42 epileptic encephalopathy, early infantile, 6 10.1
43 pyridoxamine 5-prime-phosphate oxidase deficiency 10.1
44 alacrima, achalasia, and mental retardation syndrome 10.1
45 leukemia, acute lymphoblastic 3 10.1
46 asparagine synthetase deficiency 10.1
47 autosomal recessive disease 10.1
48 withdrawal disorder 10.1
49 molybdenum cofactor deficiency 10.1
50 cortical blindness 10.1
51 obstructive hydrocephalus 10.1
52 hypophosphatasia 10.1
53 cataract 10.1
54 microcephaly 10.1
55 polg-related disorders 10.1
56 zellweger spectrum disorder 10.1
57 pyridoxine deficiency 10.1
58 spasticity 10.1
59 syncope 10.1
60 tremor 10.1
61 obsolete: atypical teratoid/rhabdoid tumor 10.1
62 folinic acid-responsive seizures 10.1
63 ovarian cancer 10.1
64 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
65 asthma 10.1
66 major affective disorder 8 10.1
67 major affective disorder 9 10.1
68 dementia 10.1
69 personality disorder 10.1
70 endogenous depression 10.1
71 bipolar disorder 10.1
72 carotid artery disease 10.1
73 placenta disease 10.1
74 achalasia 10.1
75 48,xyyy 10.1
76 breast cancer 10.0
77 leukemia, chronic lymphocytic 10.0
78 osteogenic sarcoma 10.0
79 trypanosomiasis 10.0
80 lymphocytic leukemia 10.0
81 tetanus 10.0
82 premature ejaculation 10.0
83 squamous cell papilloma 10.0
84 papilloma 10.0
85 skin carcinoma 10.0
86 spindle cell carcinoma 10.0
87 cerebrovascular disease 10.0
88 fundus dystrophy 10.0
89 spinal cord injury 10.0
90 inherited retinal disorder 10.0
91 apraxia 10.0
92 visual agnosia 10.0
93 agnosia 10.0
94 homocystinuria 10.0
95 alzheimer disease 9.9
96 cone-rod dystrophy 2 9.9
97 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.9
98 erythroleukemia, familial 9.9
99 peyronie disease 9.9
100 retinal cone dystrophy 1 9.9
101 retinoblastoma 9.9
102 schizophrenia 9.9
103 lung cancer 9.9
104 proteasome-associated autoinflammatory syndrome 1 9.9
105 squamous cell carcinoma, head and neck 9.9
106 xeroderma pigmentosum, variant type 9.9
107 muscular dystrophy, becker type 9.9
108 prostatic hyperplasia, benign 9.9
109 creatinine clearance quantitative trait locus 9.9
110 psoriatic arthritis 9.9
111 leukemia, chronic myeloid 9.9
112 microvascular complications of diabetes 3 9.9
113 microvascular complications of diabetes 4 9.9
114 microvascular complications of diabetes 6 9.9
115 microvascular complications of diabetes 7 9.9
116 peyronie's disease 9.9
117 adult t-cell leukemia 9.9
118 female breast cancer 9.9
119 diffuse large b-cell lymphoma 9.9
120 cone dystrophy 9.9
121 renal fibrosis 9.9
122 cardiac arrest 9.9
123 polycystic kidney disease 9.9
124 cerebral artery occlusion 9.9
125 pleurisy 9.9
126 meningoencephalitis 9.9
127 prostatic hypertrophy 9.9
128 pertussis 9.9
129 pulmonary edema 9.9
130 nephrotic syndrome 9.9
131 allergic hypersensitivity disease 9.9
132 low compliance bladder 9.9
133 spinal muscular atrophy 9.9
134 leukemia 9.9
135 brain cancer 9.9
136 cholera 9.9
137 alcohol use disorder 9.9
138 vascular disease 9.9
139 hyperinsulinism 9.9
140 prostatic adenoma 9.9
141 glomerulonephritis 9.9
142 ischemia 9.9
143 mast cell neoplasm 9.9
144 pustulosis of palm and sole 9.9
145 familial retinoblastoma 9.9
146 extracutaneous mastocytoma 9.9
147 proliferative glomerulonephritis 9.9
148 mesangial proliferative glomerulonephritis 9.9
149 ureteral obstruction 9.9
150 retinal disease 9.9
151 b-cell lymphoma 9.9
152 t-cell leukemia 9.9
153 muscular atrophy 9.9
154 neuroblastoma 9.9
155 chronic kidney disease 9.9
156 carotid artery occlusion 9.9
157 retinal degeneration 9.9
158 night blindness 9.9
159 lung disease 9.9
160 vascular dementia 9.9
161 psoriasis 9.9
162 priapism 9.9
163 allergic asthma 9.9
164 encephalitis 9.9
165 myocardial stunning 9.9
166 muscular dystrophy 9.9
167 hypereosinophilic syndrome 9.9
168 allergic encephalomyelitis 9.9
169 cardiogenic shock 9.9
170 attention deficit-hyperactivity disorder 9.8
171 convulsive disorder, familial, with prenatal or early onset 9.8
172 homocystinuria due to cystathionine beta-synthase deficiency 9.8
173 ocular motor apraxia 9.8
174 striatal degeneration, autosomal dominant 2 9.8
175 spastic diplegia 9.8
176 asphyxia neonatorum 9.8
177 cerebral palsy 9.8
178 learning disability 9.8

Graphical network of the top 20 diseases related to Epilepsy, Pyridoxine-Dependent:



Diseases related to Epilepsy, Pyridoxine-Dependent

Symptoms & Phenotypes for Epilepsy, Pyridoxine-Dependent

Human phenotypes related to Epilepsy, Pyridoxine-Dependent:

58 31 (showing 21, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
3 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 abnormality of metabolism/homeostasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001939
6 abnormality of movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0100022
7 status epilepticus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002133
8 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
9 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
10 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
11 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
12 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
13 seizures 58 Very frequent (99-80%)
14 delayed speech and language development 31 HP:0000750
15 generalized hypotonia 31 HP:0001290
16 generalized myoclonic seizures 31 HP:0002123
17 respiratory distress 31 HP:0002098
18 generalized tonic-clonic seizures 31 HP:0002069
19 neonatal respiratory distress 31 HP:0002643
20 prenatal movement abnormality 31 HP:0001557
21 fetal distress 31 HP:0025116

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
status epilepticus
myoclonic seizures
hypotonia
mental retardation
more
Respiratory:
respiratory distress, neonatal

Laboratory Abnormalities:
increased serum and cerebrospinal fluid levels of pipecolic acid
increased serum, cerebrospinal fluid, and urinary levels of alpha-aminoadipic semialdehyde

Prenatal Manifestations:
fetal distress

Prenatal Manifestations Movement:
abnormal intrauterine movements

Clinical features from OMIM:

266100

UMLS symptoms related to Epilepsy, Pyridoxine-Dependent:


seizures, myoclonic seizures

Drugs & Therapeutics for Epilepsy, Pyridoxine-Dependent

Drugs for Epilepsy, Pyridoxine-Dependent (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 22, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
2
Phenytoin Approved, Vet_approved Phase 2 57-41-0 1775
3
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
5 Trace Elements Phase 2
6 Vitamin B 6 Phase 2
7 Vitamins Phase 2
8 Vitamin B Complex Phase 2
9 Micronutrients Phase 2
10 Vitamin B9 Phase 2
11 Nutrients Phase 2
12 Folate Phase 2
13 Neurotransmitter Agents Phase 2
14 Tranquilizing Agents Phase 2
15 Anticonvulsants Phase 2
16 Sodium Channel Blockers Phase 2
17 Psychotropic Drugs Phase 2
18 Diuretics, Potassium Sparing Phase 2
19 Antimanic Agents Phase 2
20 GABA Agents Phase 2
21 Central Nervous System Depressants Phase 2
22
Pyridoxal Experimental, Nutraceutical Phase 2 66-72-8 1050

Interventional clinical trials:

(showing 3, show less)
# Name Status NCT ID Phase Drugs
1 Treatment of Nodding Syndrome - A Randomized Blinded Placebo-Controlled Crossover Trial of Oral Pyridoxine and Conventional Anti-Epileptic Therapy, in Northern Uganda — 2012 Unknown status NCT01730313 Phase 2 Pyridoxine;Sodium Valproate;Phenytoin;Placebo
2 Biomarker for Hypophosphatasia Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02603042
3 Neurodevelopmental Outcome of Early Dietary Lysine Restriction in Pyridoxine Withdrawn NCT01795170 Pyridoxine

Search NIH Clinical Center for Epilepsy, Pyridoxine-Dependent

Genetic Tests for Epilepsy, Pyridoxine-Dependent

Genetic tests related to Epilepsy, Pyridoxine-Dependent:

# Genetic test Affiliating Genes
1 Pyridoxine-Dependent Epilepsy 29 ALDH7A1

Anatomical Context for Epilepsy, Pyridoxine-Dependent

MalaCards organs/tissues related to Epilepsy, Pyridoxine-Dependent:

40
Brain, Testes, Kidney

Publications for Epilepsy, Pyridoxine-Dependent

Articles related to Epilepsy, Pyridoxine-Dependent:

(showing 195, show less)
# Title Authors PMID Year
1
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1). 61 56 24 6
17721876 2007
2
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. 61 6 56 24
17068770 2007
3
Epidemiology of pyridoxine dependent seizures in the Netherlands. 6 56 24 61
16159904 2005
4
Mutations in antiquitin in individuals with pyridoxine-dependent seizures. 6 56 24
16491085 2006
5
Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. 6 56
17088338 2007
6
A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. 61 56 24
10978228 2000
7
Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. 56 24
16075246 2005
8
Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures. 24 56
10908915 2000
9
Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants. 56 24
3977296 1985
10
Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. 24 56
13133562 1954
11
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency. 56 61
29061647 2017
12
Pyridoxine-Dependent Epilepsy 61 6
20301659 2001
13
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. 24 61
27912044 2016
14
Pyridoxine-dependent epilepsy: report on three families with neuropathology. 24 61
27438048 2016
15
A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1. 24 61
27212567 2016
16
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum. 24 61
26995068 2016
17
Corpus Callosum Diffusion and Connectivity Features in High Functioning Subjects With Pyridoxine-Dependent Epilepsy. 61 24
26547255 2016
18
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome. 61 24
26026794 2015
19
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. 61 24
26224730 2015
20
Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet. 61 24
25127453 2014
21
Callosal alterations in pyridoxine-dependent epilepsy. 24 61
24942048 2014
22
Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. 61 24
24613284 2014
23
Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy. 61 24
24122892 2014
24
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. 24 61
24748525 2014
25
Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. 61 24
23953072 2013
26
Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene. 24 61
23376216 2013
27
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. 61 24
23350806 2013
28
Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. 24 61
23147983 2012
29
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy. 61 24
23166088 2012
30
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. 61 24
22403017 2012
31
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. 24 61
23022070 2012
32
Long-term outcome in pyridoxine-dependent epilepsy. 24 61
22804844 2012
33
Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. 24 61
22784480 2012
34
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. 24 61
21704546 2011
35
The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy. 24 61
20887371 2010
36
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. 24 61
20814824 2010
37
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. 61 24
20370816 2010
38
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). 61 24
20554659 2010
39
Electroencephalographic changes in pyridoxine-dependant epilepsy: new observations. 61 24
20031502 2009
40
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. 61 24
19142996 2009
41
Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. 61 24
19294602 2008
42
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. 24 61
15944906 2005
43
Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. 24 61
10448181 1999
44
Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy. 24 61
9621518 1998
45
Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy. 24 61
7750075 1995
46
Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up. 24 61
1707793 1991
47
Late-onset pyridoxine-dependency convulsions. 56
6651254 1983
48
Pyridoxine-dependency seizure: report of a rare presentation. 56
6830153 1983
49
Vitamin B 6 -dependency of glutamic acid decarboxylase in the kidney from a patient with vitamin B 6 dependent convulsion. 56
5566248 1971
50
Glutamic acid decarboxylase (GAD) in mammalian tissue outside the central nervous system, and its possible relevance to hereditary vitamin B6 dependency with seizures. 56
5262035 1969
51
Familial intrauterine convulsions in pyridoxine dependency. 56
6024470 1967
52
Vitamin B6 deficiency and dependency in man. 56
5333772 1967
53
The vitamin B6 deficiency syndrome in human infancy: biochemical and clinical observations. 56
13992602 1963
54
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6. 24
26446091 2016
55
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. 24
24645144 2014
56
Pyridoxine responsiveness in novel mutations of the PNPO gene. 24
24658933 2014
57
Partial Pyridoxine Responsiveness in PNPO Deficiency. 24
23430561 2013
58
Genes of early-onset epileptic encephalopathies: from genotype to phenotype. 24
22196487 2012
59
Rare copy number variants are an important cause of epileptic encephalopathies. 24
22190369 2011
60
Antenatal treatment in two Dutch families with pyridoxine-dependent seizures. 24
19588165 2010
61
Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. 24
18762976 2009
62
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. 24
19128417 2009
63
Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures. 24
18717709 2009
64
Very-late-onset pyridoxine-dependent seizures not linking to the known 5q31 locus. 24
19261126 2008
65
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy. 24
18296573 2008
66
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. 24
17433748 2007
67
Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime. 24
17376142 2007
68
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. 24
17216302 2007
69
Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment. 24
16538088 2006
70
Folinic acid-responsive seizures initially responsive to pyridoxine. 24
16458834 2006
71
Pyridoxine or pyridoxal phosphate for intractable seizures? 24
15851419 2005
72
Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy. 24
15851435 2005
73
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. 24
15772097 2005
74
Pyridoxine-dependent seizures and cognition in adulthood. 24
14580135 2003
75
Pyridoxine-dependent and pyridoxine-responsive seizures. 24
11409832 2001
76
Neonatal seizures after pyridoxine use. 24
10636399 1999
77
Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. 24
10519720 1999
78
Folinic acid-responsive neonatal seizures. 24
10456764 1999
79
Demographics and diagnosis of pyridoxine-dependent seizures. 24
10356240 1999
80
Long-term follow-up of an individual with vitamin B6-dependent seizures. 24
10210253 1999
81
Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. 24
8913181 1996
82
Folinic acid responsive seizures: a new syndrome? 24
7564240 1995
83
Homology between a human protein and a protein of the green garden pea. 24
8088832 1994
84
Postneonatal vitamin B6-dependent epilepsy. 24
1641285 1992
85
Diagnosis of pyridoxine-dependent epilepsy in an adult presenting with recurrent status epilepticus. 61
31849043 2019
86
Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study. 61
31737911 2019
87
Pyridoxine-dependent epilepsy is more than just epilepsy. 61
31763687 2019
88
[Pyridoxine-dependent epilepsy due to deficiency in the PNPO gene]. 61
31559630 2019
89
Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy. 61
31652343 2019
90
Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy. 61
31487502 2019
91
Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses. 61
31452203 2019
92
Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy. 61
31388081 2019
93
New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency. 61
30767241 2019
94
Structural and biochemical consequences of pyridoxine-dependent epilepsy mutations that target the aldehyde binding site of aldehyde dehydrogenase ALDH7A1. 61
31302938 2019
95
Cerebral folate deficiency: Analytical tests and differential diagnosis. 61
30916789 2019
96
The effectiveness of correcting abnormal metabolic profiles. 61
31222759 2019
97
Neonatal pyridoxine administration long lastingly accelerates cortical spreading depression in male rats, without affecting anxiety-like behavior. 61
31221041 2019
98
Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening. 61
30663059 2019
99
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy. 61
30043187 2019
100
The Effects of a Single Oral Dose of Pyridoxine on Alpha-Aminoadipic Semialdehyde, Piperideine-6-Carboxylate, Pipecolic Acid, and Alpha-Aminoadipic Acid Levels in Pyridoxine-Dependent Epilepsy. 61
31508398 2019
101
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review. 61
30005813 2018
102
High-Fidelity Simulation Scenario: Pyridoxine-Dependent Epilepsy and Treatment. 61
30800953 2018
103
Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy. 61
29875223 2018
104
Developmental outcome in pyridoxine-dependent epilepsy: Better late (onset) than early. 61
29887411 2018
105
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome? 61
29661537 2018
106
Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria. 61
29954767 2018
107
Neonatal epilepsies: Clinical management. 61
29426806 2018
108
Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings. 61
29401530 2018
109
Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1. 61
29547829 2018
110
Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review. 61
29295802 2018
111
Biomarker Profiling for Pyridoxine Dependent Epilepsy in Dried Blood Spots by HILIC-ESI-MS. 61
30154848 2018
112
Importance of the C-Terminus of Aldehyde Dehydrogenase 7A1 for Oligomerization and Catalytic Activity. 61
29045138 2017
113
Vitamin B6 is essential for serine de novo biosynthesis. 61
28801717 2017
114
Impact of disease-Linked mutations targeting the oligomerization interfaces of aldehyde dehydrogenase 7A1. 61
28087462 2017
115
Clinical and genetic characteristics of pyridoxine-dependent epilepsy: Case series report of three Chinese patients with phenotypic variability. 61
28962114 2017
116
Obstructive Hydrocephalus in Pyridoxine-Dependent Epilepsy: An Uncommon Complication. 61
28216032 2017
117
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy. 61
27882480 2017
118
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy. 61
27856333 2017
119
Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child. 61
28131559 2017
120
Current knowledge for pyridoxine-dependent epilepsy: a 2016 update. 61
30058881 2017
121
Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. 61
29053735 2017
122
Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE). 61
27615426 2017
123
Plasma Pyridoxal 5´-Phosphate Level in Children with Intractable and Controlled Epilepsy. 61
28698725 2017
124
[Intermittent convulsions for 1.5 years and psychomotor retardation in a girl]. 61
28100327 2017
125
A 15-year-old with seizures: late diagnosis of pyridoxine-dependent epilepsy. 61
26943461 2016
126
Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy. 61
27522229 2016
127
[Pyridoxine dependent epilepsy with atypical clinical presentation]. 61
27806798 2016
128
[Clinical and genetic characteristics and detection of urinary pipecolic acid in pyridoxine dependent epilepsy]. 61
27510871 2016
129
Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy. 61
27324284 2016
130
A novel method for simultaneous quantification of alpha-aminoadipic semialdehyde/piperideine-6-carboxylate and pipecolic acid in plasma and urine. 61
26970849 2016
131
Simultaneous detection of lysine metabolites by a single LC-MS/MS method: monitoring lysine degradation in mouse plasma. 61
27026869 2016
132
A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients. 61
26555630 2015
133
First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene. 61
26232297 2015
134
SAXS fingerprints of aldehyde dehydrogenase oligomers. 61
26693506 2015
135
Gene sleuthing in pyridoxine-dependent epilepsy. 61
26224728 2015
136
Structural Basis of Substrate Recognition by Aldehyde Dehydrogenase 7A1. 61
26260980 2015
137
Case Report: Intravenous and Oral Pyridoxine Trial for Diagnosis of Pyridoxine-Dependent Epilepsy. 61
26101365 2015
138
Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature. 61
27186704 2015
139
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 61
25818041 2015
140
Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy. 61
25123644 2015
141
Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome. 61
24789515 2015
142
Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I. 61
25214427 2015
143
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. 61
25758715 2015
144
Current treatment and management of pyridoxine-dependent epilepsy. 61
25639976 2015
145
Corpus callosum alterations in pyridoxine-dependent epilepsy: a mirror image of an ongoing disease? 61
24948334 2014
146
Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures. 61
25274592 2014
147
Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsies. 61
24114605 2014
148
Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient. 61
24664088 2014
149
Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. 61
24664145 2014
150
Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases. 61
24316525 2014
151
Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect. 61
27896080 2014
152
Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome. 61
24184718 2013
153
Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation. 61
23916709 2013
154
[Advances in clinical and molecular genetic research on pyridoxine dependent epilepsy]. 61
24484566 2013
155
Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations. 61
23683770 2013
156
Pyridoxine-dependent epilepsy: an often unrecognized but treatable cause of intractable seizures: case report from Korle Bu Teaching Hospital, Accra, Ghana. 61
24122693 2013
157
Congenital cataract in a child with pyridoxine-dependent epilepsy. 61
23602455 2013
158
Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene. 61
23925287 2013
159
Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures. 61
23479201 2013
160
Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy. 61
23054014 2013
161
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy. 61
23430810 2013
162
Inborn errors of metabolism causing epilepsy. 61
22998469 2013
163
A case of extreme prematurity and delayed diagnosis of pyridoxine-dependent epilepsy. 61
23022904 2012
164
Natural history of pyridoxine-dependent epilepsy: tools for prognostication. 61
22803601 2012
165
Epilepsy as a pyridoxine-dependent condition: quantified urinary biomarkers for status evaluation and monitoring antiepileptic treatment. 61
22647618 2012
166
Pyridoxine dependent epilepsy: enduring mystery and continuing challenges. 61
22728846 2012
167
Variability of phenotype in two sisters with pyridoxine dependent epilepsy. 61
22728861 2012
168
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. 61
22529283 2012
169
Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1. 61
22305855 2012
170
Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures. 61
21496129 2012
171
Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy. 61
22371912 2012
172
Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity? 61
21707605 2011
173
Roth spots in pyridoxine dependent epilepsy. 61
22688935 2011
174
Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy. 61
21397171 2011
175
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration. 61
21305354 2011
176
Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy. 61
21292558 2011
177
Novel mutations in pyridoxine-dependent epilepsy. 61
20427214 2011
178
Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics. 61
20412262 2010
179
Vitamin B6 dependent seizures. 61
19760909 2009
180
Metabolic epilepsies: approaches to a diagnostic challenge. 61
19760908 2009
181
Pyridoxine-dependent epilepsy initially responsive to phenobarbital. 61
18094870 2007
182
Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency. 61
17560822 2007
183
The pediatric neurotransmitter disorders. 61
17690069 2007
184
Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy. 61
16178031 2005
185
Focal status epilepticus as atypical presentation of pyridoxine-dependent epilepsy. 61
16225819 2005
186
Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats. 61
16151899 2005
187
Clinical aspects of the disorders of GABA metabolism in children. 61
15021235 2004
188
Pediatric neurotransmitter diseases. 61
14984687 2004
189
Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine. 61
11897481 2002
190
Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. 61
11012277 2000
191
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. 61
10894227 2000
192
A subtype of pyridoxine-dependent epilepsy with normal CSF glutamate concentration. 61
9700605 1998
193
Pyridoxine-dependent epilepsy: the need for repeated pyridoxine trials and the risk of severe electrocerebral suppression with intravenous pyridoxine infusion. 61
8877616 1996
194
[Pyridoxine-dependent epilepsy in an infant]. 61
7566233 1995
195
Glutamate in pyridoxine-dependent epilepsy: neurotoxic glutamate concentration in the cerebrospinal fluid and its normalization by pyridoxine. 61
7915028 1994

Variations for Epilepsy, Pyridoxine-Dependent

ClinVar genetic disease variations for Epilepsy, Pyridoxine-Dependent:

6 (showing 200, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALDH7A1 NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter)SNV Pathogenic 17995 rs121912708 5:125919689-125919689 5:126583997-126583997
2 ALDH7A1 NM_001182.5(ALDH7A1):c.518-1G>CSNV Pathogenic 17996 5:125912904-125912904 5:126577212-126577212
3 ALDH7A1 NM_001182.5(ALDH7A1):c.312+2T>ASNV Pathogenic 17997 rs1561672504 5:125928354-125928354 5:126592662-126592662
4 ALDH7A1 NM_001182.5(ALDH7A1):c.596C>T (p.Ala199Val)SNV Pathogenic 17998 rs121912709 5:125912825-125912825 5:126577133-126577133
5 ALDH7A1 NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs)deletion Pathogenic 17999 rs387906574 5:125880680-125880680 5:126544988-126544988
6 ALDH7A1 NM_001182.5(ALDH7A1):c.1224T>G (p.Tyr408Ter)SNV Pathogenic 18000 rs121912710 5:125887806-125887806 5:126552114-126552114
7 ALDH7A1 NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile)SNV Pathogenic 18001 rs121912711 5:125896786-125896786 5:126561094-126561094
8 ALDH7A1 NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)SNV Pathogenic 18002 5:125903988-125903988 5:126568296-126568296
9 ALDH7A1 NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg)SNV Pathogenic 204852 rs556400964 5:125882068-125882068 5:126546376-126546376
10 ALDH7A1 NM_001182.5(ALDH7A1):c.1193G>T (p.Gly398Val)SNV Pathogenic 220511 rs864622557 5:125889986-125889986 5:126554294-126554294
11 ALDH7A1 NM_001182.5(ALDH7A1):c.986G>A (p.Arg329Lys)SNV Pathogenic 220512 rs864622558 5:125894954-125894954 5:126559262-126559262
12 ALDH7A1 NM_001182.5(ALDH7A1):c.584A>G (p.Asn195Ser)SNV Pathogenic 219413 rs372660425 5:125912837-125912837 5:126577145-126577145
13 ALDH7A1 NM_001182.5(ALDH7A1):c.1566-1G>TSNV Pathogenic 374140 rs140845195 5:125880712-125880712 5:126545020-126545020
14 ALDH7A1 NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu)SNV Pathogenic 410537 rs764417585 5:125912891-125912891 5:126577199-126577199
15 ALDH7A1 NM_001182.5(ALDH7A1):c.43_46dup (p.Ser16fs)duplication Pathogenic 574950 rs767805540 5:125930845-125930848 5:126595153-126595156
16 ALDH7A1 NM_001182.5(ALDH7A1):c.796C>T (p.Arg266Ter)SNV Pathogenic 465333 rs1270423610 5:125904026-125904026 5:126568334-126568334
17 ALDH7A1 NM_001182.5(ALDH7A1):c.532_542del (p.Leu178fs)deletion Pathogenic 465331 rs765119568 5:125912879-125912889 5:126577187-126577197
18 ALDH7A1 NM_001182.5(ALDH7A1):c.1003C>T (p.Arg335Ter)SNV Pathogenic 652356 5:125894937-125894937 5:126559245-126559245
19 ALDH7A1 NC_000005.9:g.(?_125911092)_(125911176_?)deldeletion Pathogenic 584164 5:125911092-125911176 5:126575400-126575484
20 ALDH7A1 NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser)SNV Pathogenic/Likely pathogenic 426363 rs779652673 5:125912832-125912832 5:126577140-126577140
21 ALDH7A1 NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)SNV Pathogenic/Likely pathogenic 17994 rs121912707 5:125887751-125887751 5:126552059-126552059
22 ALDH7A1 NM_001182.5(ALDH7A1):c.247-1G>CSNV Likely pathogenic 410540 rs1060502949 5:125928422-125928422 5:126592730-126592730
23 ALDH7A1 NM_001182.5(ALDH7A1):c.246+1G>ASNV Likely pathogenic 449124 rs764588746 5:125929042-125929042 5:126593350-126593350
24 ALDH7A1 NM_001182.5(ALDH7A1):c.1200+1G>TSNV Likely pathogenic 465322 rs1217642695 5:125889978-125889978 5:126554286-126554286
25 ALDH7A1 NM_001182.5(ALDH7A1):c.332G>A (p.Gly111Glu)SNV Likely pathogenic 666201 5:125919685-125919685 5:126583993-126583993
26 ALDH7A1 NM_001182.5(ALDH7A1):c.192+3A>TSNV Likely pathogenic 465326 rs773814169 5:125930696-125930696 5:126595004-126595004
27 ALDH7A1 NM_001182.5(ALDH7A1):c.914-2A>CSNV Likely pathogenic 659324 5:125895028-125895028 5:126559336-126559336
28 ALDH7A1 NM_001182.5(ALDH7A1):c.246+6A>TSNV Conflicting interpretations of pathogenicity 465327 rs759910341 5:125929037-125929037 5:126593345-126593345
29 ALDH7A1 NM_001182.5(ALDH7A1):c.354C>T (p.Gly118=)SNV Conflicting interpretations of pathogenicity 410539 rs149228266 5:125919663-125919663 5:126583971-126583971
30 ALDH7A1 NM_001182.5(ALDH7A1):c.313-15G>ASNV Conflicting interpretations of pathogenicity 350586 rs201720741 5:125919719-125919719 5:126584027-126584027
31 ALDH7A1 NM_001182.5(ALDH7A1):c.34del (p.Ala12fs)deletion Conflicting interpretations of pathogenicity 372663 rs750693623 5:125930857-125930857 5:126595165-126595165
32 ALDH7A1 NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln)SNV Conflicting interpretations of pathogenicity 204832 rs754449549 5:125894936-125894936 5:126559244-126559244
33 ALDH7A1 NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His)SNV Conflicting interpretations of pathogenicity 265034 rs147940248 5:125885897-125885897 5:126550205-126550205
34 ALDH7A1 NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met)SNV Conflicting interpretations of pathogenicity 265033 rs376917645 5:125912846-125912846 5:126577154-126577154
35 ALDH7A1 NM_001182.5(ALDH7A1):c.63T>C (p.Pro21=)SNV Conflicting interpretations of pathogenicity 287061 rs368427726 5:125930828-125930828 5:126595136-126595136
36 ALDH7A1 NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys)SNV Conflicting interpretations of pathogenicity 204848 rs747597620 5:125887729-125887729 5:126552037-126552037
37 ALDH7A1 NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala)SNV Conflicting interpretations of pathogenicity 194825 rs61757684 5:125880710-125880710 5:126545018-126545018
38 ALDH7A1 NM_001182.5(ALDH7A1):c.1022G>A (p.Ser341Asn)SNV Conflicting interpretations of pathogenicity 204821 rs141701364 5:125891694-125891694 5:126556002-126556002
39 ALDH7A1 NM_001182.5(ALDH7A1):c.1016A>G (p.His339Arg)SNV Conflicting interpretations of pathogenicity 204864 rs199767457 5:125891700-125891700 5:126556008-126556008
40 ALDH7A1 NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala)SNV Conflicting interpretations of pathogenicity 204833 rs777829351 5:125911143-125911143 5:126575451-126575451
41 ALDH7A1 NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met)SNV Conflicting interpretations of pathogenicity 204834 rs543181020 5:125929089-125929089 5:126593397-126593397
42 SCN2A NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)SNV Conflicting interpretations of pathogenicity 130213 rs184769423 2:166170611-166170611 2:165314101-165314101
43 ALDH7A1 NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=)SNV Conflicting interpretations of pathogenicity 136368 rs369380330 5:125912806-125912806 5:126577114-126577114
44 ALDH7A1 NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val)SNV Conflicting interpretations of pathogenicity 128348 rs117295656 5:125919644-125919644 5:126583952-126583952
45 ALDH7A1 NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=)SNV Conflicting interpretations of pathogenicity 136375 rs587780850 5:125887767-125887767 5:126552075-126552075
46 ALDH7A1 NM_001182.4(ALDH7A1):c.-29T>CSNV Conflicting interpretations of pathogenicity 136378 rs556650006 5:125930919-125930919 5:126595227-126595227
47 ALDH7A1 NM_001182.5(ALDH7A1):c.56C>T (p.Ser19Phe)SNV Uncertain significance 204855 rs566243475 5:125930835-125930835 5:126595143-126595143
48 ALDH7A1 NM_001182.5(ALDH7A1):c.31_33delinsGAG (p.His11Glu)indel Uncertain significance 204861 rs796052269 5:125930858-125930860 5:126595166-126595168
49 ALDH7A1 NM_001182.5(ALDH7A1):c.8G>T (p.Arg3Leu)SNV Uncertain significance 204854 rs759866910 5:125930883-125930883 5:126595191-126595191
50 ALDH7A1 NM_001182.5(ALDH7A1):c.8G>A (p.Arg3His)SNV Uncertain significance 204866 rs759866910 5:125930883-125930883 5:126595191-126595191
51 ALDH7A1 NM_001182.5(ALDH7A1):c.553G>A (p.Val185Ile)SNV Uncertain significance 204830 rs61757685 5:125912868-125912868 5:126577176-126577176
52 ALDH7A1 NM_001182.5(ALDH7A1):c.542A>G (p.Gln181Arg)SNV Uncertain significance 204829 rs796052257 5:125912879-125912879 5:126577187-126577187
53 ALDH7A1 NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp)SNV Uncertain significance 204863 rs370624118 5:125919653-125919653 5:126583961-126583961
54 ALDH7A1 NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn)SNV Uncertain significance 204835 rs58528748 5:125929086-125929086 5:126593394-126593394
55 ALDH7A1 NM_001182.5(ALDH7A1):c.1010T>G (p.Phe337Cys)SNV Uncertain significance 204840 rs747834606 5:125891706-125891706 5:126556014-126556014
56 ALDH7A1 NM_001182.5(ALDH7A1):c.577G>A (p.Ala193Thr)SNV Uncertain significance 198127 rs773503933 5:125912844-125912844 5:126577152-126577152
57 ALDH7A1 NM_001182.5(ALDH7A1):c.1084C>T (p.Pro362Ser)SNV Uncertain significance 204842 rs532800318 5:125891632-125891632 5:126555940-126555940
58 ALDH7A1 NM_001182.5(ALDH7A1):c.1046G>C (p.Arg349Thr)SNV Uncertain significance 204841 rs553114356 5:125891670-125891670 5:126555978-126555978
59 POMT1 NM_007171.3(POMT1):c.855G>C (p.Leu285Phe)SNV Uncertain significance 288794 rs201073763 9:134385736-134385736 9:131510349-131510349
60 ALDH7A1 NM_001182.5(ALDH7A1):c.*1529A>GSNV Uncertain significance 350552 rs886059839 5:125879128-125879128 5:126543436-126543436
61 ALDH7A1 NM_001182.5(ALDH7A1):c.*2464dupduplication Uncertain significance 350533 rs200155555 5:125878193-125878193 5:126542501-126542501
62 ALDH7A1 NM_001182.5(ALDH7A1):c.*2387A>GSNV Uncertain significance 350536 rs116566135 5:125878270-125878270 5:126542578-126542578
63 ALDH7A1 NM_001182.5(ALDH7A1):c.*2126G>ASNV Uncertain significance 350540 rs115168957 5:125878531-125878531 5:126542839-126542839
64 ALDH7A1 NM_001182.5(ALDH7A1):c.*1839G>ASNV Uncertain significance 350541 rs886059838 5:125878818-125878818 5:126543126-126543126
65 ALDH7A1 NM_001182.5(ALDH7A1):c.*1836C>ASNV Uncertain significance 350542 rs763990036 5:125878821-125878821 5:126543129-126543129
66 ALDH7A1 NM_001182.5(ALDH7A1):c.1066C>G (p.Gln356Glu)SNV Uncertain significance 283788 rs138675705 5:125891650-125891650 5:126555958-126555958
67 ALDH7A1 NM_001182.5(ALDH7A1):c.860A>G (p.Gln287Arg)SNV Uncertain significance 204839 rs796052261 5:125903962-125903962 5:126568270-126568270
68 ALDH7A1 NM_001182.5(ALDH7A1):c.*980deldeletion Uncertain significance 350568 rs886059846 5:125879677-125879677 5:126543985-126543985
69 ALDH7A1 NM_001182.5(ALDH7A1):c.*690T>CSNV Uncertain significance 350574 rs139905907 5:125879967-125879967 5:126544275-126544275
70 ALDH7A1 NM_001182.5(ALDH7A1):c.*409deldeletion Uncertain significance 350577 rs556732113 5:125880248-125880248 5:126544556-126544556
71 ALDH7A1 NM_001182.5(ALDH7A1):c.*404G>ASNV Uncertain significance 350578 rs533678440 5:125880253-125880253 5:126544561-126544561
72 ALDH7A1 NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr)SNV Uncertain significance 350582 rs886059849 5:125885671-125885671 5:126549979-126549979
73 ALDH7A1 NM_001182.5(ALDH7A1):c.1008+11C>TSNV Uncertain significance 350583 rs367574304 5:125894921-125894921 5:126559229-126559229
74 ALDH7A1 NM_001182.4(ALDH7A1):c.-80T>GSNV Uncertain significance 350589 rs563928852 5:125930970-125930970 5:126595278-126595278
75 ALDH7A1 NM_001182.5(ALDH7A1):c.*2568_*2569dupduplication Uncertain significance 350528 rs771970643 5:125878088-125878089 5:126542396-126542397
76 ALDH7A1 NM_001182.5(ALDH7A1):c.*3124A>GSNV Uncertain significance 350519 rs572425402 5:125877533-125877533 5:126541841-126541841
77 ALDH7A1 NM_001182.5(ALDH7A1):c.*2818T>CSNV Uncertain significance 350524 rs886059833 5:125877839-125877839 5:126542147-126542147
78 ALDH7A1 NM_001182.5(ALDH7A1):c.*2409A>CSNV Uncertain significance 350535 rs776633516 5:125878248-125878248 5:126542556-126542556
79 ALDH7A1 NM_001182.5(ALDH7A1):c.*2365C>TSNV Uncertain significance 350537 rs886059837 5:125878292-125878292 5:126542600-126542600
80 ALDH7A1 NM_001182.5(ALDH7A1):c.*2314T>CSNV Uncertain significance 350538 rs561998848 5:125878343-125878343 5:126542651-126542651
81 ALDH7A1 NM_001182.5(ALDH7A1):c.*1176G>ASNV Uncertain significance 350558 rs886059842 5:125879481-125879481 5:126543789-126543789
82 ALDH7A1 NM_001182.5(ALDH7A1):c.*1748_*1749delinsATindel Uncertain significance 350545 rs386692155 5:125878908-125878909 5:126543216-126543217
83 ALDH7A1 NM_001182.5(ALDH7A1):c.1376T>C (p.Ile459Thr)SNV Uncertain significance 373649 rs1057518529 5:125885927-125885927 5:126550235-126550235
84 ALDH7A1 NM_001182.5(ALDH7A1):c.*65G>ASNV Uncertain significance 350581 rs886059848 5:125880592-125880592 5:126544900-126544900
85 ALDH7A1 NM_001182.5(ALDH7A1):c.*2820dupduplication Uncertain significance 350523 rs886059832 5:125877837-125877837 5:126542145-126542145
86 ALDH7A1 NM_001182.5(ALDH7A1):c.*1730C>TSNV Uncertain significance 350548 rs185960737 5:125878927-125878927 5:126543235-126543235
87 ALDH7A1 NM_001182.5(ALDH7A1):c.*641G>ASNV Uncertain significance 350575 rs372065850 5:125880016-125880016 5:126544324-126544324
88 ALDH7A1 NM_001182.5(ALDH7A1):c.79G>C (p.Ala27Pro)SNV Uncertain significance 410543 rs1060502950 5:125930812-125930812 5:126595120-126595120
89 ALDH7A1 NM_001182.5(ALDH7A1):c.682G>A (p.Val228Met)SNV Uncertain significance 410542 rs201832111 5:125911125-125911125 5:126575433-126575433
90 ALDH7A1 NM_001182.5(ALDH7A1):c.914C>G (p.Ala305Gly)SNV Uncertain significance 410541 rs141775154 5:125895026-125895026 5:126559334-126559334
91 ALDH7A1 NM_001182.5(ALDH7A1):c.1559C>T (p.Ser520Phe)SNV Uncertain significance 465325 rs1554097854 5:125882022-125882022 5:126546330-126546330
92 ALDH7A1 NM_001182.5(ALDH7A1):c.263A>T (p.Tyr88Phe)SNV Uncertain significance 410538 rs376294954 5:125928405-125928405 5:126592713-126592713
93 ALDH7A1 NM_001182.5(ALDH7A1):c.1520A>C (p.Glu507Ala)SNV Uncertain significance 465323 rs80049945 5:125882061-125882061 5:126546369-126546369
94 ALDH7A1 NM_001182.5(ALDH7A1):c.952G>C (p.Ala318Pro)SNV Uncertain significance 465335 rs936151635 5:125894988-125894988 5:126559296-126559296
95 ALDH7A1 NM_001182.5(ALDH7A1):c.154G>C (p.Glu52Gln)SNV Uncertain significance 465324 rs765562932 5:125930737-125930737 5:126595045-126595045
96 ALDH7A1 NM_001182.5(ALDH7A1):c.359C>G (p.Ala120Gly)SNV Uncertain significance 465329 rs549279821 5:125919658-125919658 5:126583966-126583966
97 ALDH7A1 NM_001182.5(ALDH7A1):c.355G>A (p.Asp119Asn)SNV Uncertain significance 465328 rs1212969829 5:125919662-125919662 5:126583970-126583970
98 ALDH7A1 NM_001182.5(ALDH7A1):c.686C>T (p.Ala229Val)SNV Uncertain significance 465332 rs1473102872 5:125911121-125911121 5:126575429-126575429
99 ALDH7A1 NM_001182.5(ALDH7A1):c.*1484T>CSNV Uncertain significance 350554 rs886059841 5:125879173-125879173 5:126543481-126543481
100 ALDH7A1 NM_001182.5(ALDH7A1):c.*1059G>ASNV Uncertain significance 350561 rs541187121 5:125879598-125879598 5:126543906-126543906
101 ALDH7A1 NM_001182.5(ALDH7A1):c.*1004dupduplication Uncertain significance 350562 rs886059843 5:125879653-125879653 5:126543961-126543961
102 ALDH7A1 NM_001182.5(ALDH7A1):c.*1002deldeletion Uncertain significance 350564 rs886059845 5:125879655-125879655 5:126543963-126543963
103 ALDH7A1 NM_001182.5(ALDH7A1):c.*1000dupduplication Uncertain significance 350565 rs60217601 5:125879657-125879657 5:126543965-126543965
104 ALDH7A1 NM_001182.5(ALDH7A1):c.*717G>ASNV Uncertain significance 350573 rs886059847 5:125879940-125879940 5:126544248-126544248
105 ALDH7A1 NM_001182.5(ALDH7A1):c.119C>T (p.Ala40Val)SNV Uncertain significance 350587 rs745385277 5:125930772-125930772 5:126595080-126595080
106 ALDH7A1 NM_001182.5(ALDH7A1):c.*2492C>TSNV Uncertain significance 350532 rs768166252 5:125878165-125878165 5:126542473-126542473
107 ALDH7A1 NM_001182.5(ALDH7A1):c.*1693A>CSNV Uncertain significance 350550 rs557939339 5:125878964-125878964 5:126543272-126543272
108 ALDH7A1 NM_001182.5(ALDH7A1):c.*1209G>ASNV Uncertain significance 350557 rs555172968 5:125879448-125879448 5:126543756-126543756
109 ALDH7A1 NM_001182.5(ALDH7A1):c.*403C>TSNV Uncertain significance 350579 rs112493228 5:125880254-125880254 5:126544562-126544562
110 ALDH7A1 NM_001182.5(ALDH7A1):c.518-8G>ASNV Uncertain significance 350584 rs886059850 5:125912911-125912911 5:126577219-126577219
111 ALDH7A1 NM_001182.5(ALDH7A1):c.394-15G>ASNV Uncertain significance 350585 rs766287925 5:125918681-125918681 5:126582989-126582989
112 ALDH7A1 NM_001182.5(ALDH7A1):c.*2423C>TSNV Uncertain significance 350534 rs114575585 5:125878234-125878234 5:126542542-126542542
113 ALDH7A1 NM_001182.5(ALDH7A1):c.*2996_*2997dupduplication Uncertain significance 350522 rs5871217 5:125877660-125877661 5:126541968-126541969
114 ALDH7A1 NM_001182.5(ALDH7A1):c.*2781C>TSNV Uncertain significance 350525 rs886059834 5:125877876-125877876 5:126542184-126542184
115 ALDH7A1 NM_001182.5(ALDH7A1):c.*2700A>TSNV Uncertain significance 350526 rs886059835 5:125877957-125877957 5:126542265-126542265
116 ALDH7A1 NM_001182.5(ALDH7A1):c.*2584C>ASNV Uncertain significance 350527 rs886059836 5:125878073-125878073 5:126542381-126542381
117 ALDH7A1 NM_001182.5(ALDH7A1):c.*2549G>CSNV Uncertain significance 350529 rs556404419 5:125878108-125878108 5:126542416-126542416
118 ALDH7A1 NM_001182.5(ALDH7A1):c.*2512G>ASNV Uncertain significance 350530 rs76363408 5:125878145-125878145 5:126542453-126542453
119 ALDH7A1 NM_001182.5(ALDH7A1):c.*1496T>ASNV Uncertain significance 350553 rs886059840 5:125879161-125879161 5:126543469-126543469
120 ALDH7A1 NM_001182.5(ALDH7A1):c.*1441C>TSNV Uncertain significance 350555 rs541286622 5:125879216-125879216 5:126543524-126543524
121 ALDH7A1 NM_001182.5(ALDH7A1):c.*1002_*1003insAinsertion Uncertain significance 350563 rs886059844 5:125879654-125879655 5:126543962-126543963
122 ALDH7A1 NM_001182.5(ALDH7A1):c.*999_*1000dupduplication Uncertain significance 350566 rs60217601 5:125879657-125879658 5:126543965-126543966
123 ALDH7A1 NM_001182.5(ALDH7A1):c.*998_*1000dupduplication Uncertain significance 350567 rs60217601 5:125879657-125879659 5:126543965-126543967
124 ALDH7A1 NM_001182.5(ALDH7A1):c.*898_*900deldeletion Uncertain significance 350569 rs543290589 5:125879757-125879759 5:126544065-126544067
125 ALDH7A1 NM_001182.5(ALDH7A1):c.913+5G>ASNV Uncertain significance 657325 5:125896770-125896770 5:126561078-126561078
126 ALDH7A1 NM_001182.5(ALDH7A1):c.866_871+2dupduplication Uncertain significance 661262 5:125903948-125903949 5:126568257-126568264
127 ALDH7A1 NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala)SNV Uncertain significance 388119 rs150305320 5:125887754-125887754 5:126552062-126552062
128 ALDH7A1 NM_001182.5(ALDH7A1):c.553G>T (p.Val185Leu)SNV Uncertain significance 533867 rs61757685 5:125912868-125912868 5:126577176-126577176
129 GAD1 NM_000817.3(GAD1):c.1246A>G (p.Ile416Val)SNV Uncertain significance 560640 2:171709285-171709285 2:170852775-170852775
130 GRIN2A NM_001134407.3(GRIN2A):c.364G>T (p.Val122Phe)SNV Uncertain significance 560644 16:10273905-10273905 16:10180048-10180048
131 PNKP NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu)SNV Uncertain significance 560654 19:50364765-50364765 19:49861508-49861508
132 ALDH7A1 NM_001182.5(ALDH7A1):c.192G>C (p.Glu64Asp)SNV Uncertain significance 646791 5:125930699-125930699 5:126595007-126595007
133 ALDH7A1 NM_001182.5(ALDH7A1):c.18C>T (p.Arg6=)SNV Uncertain significance 638860 5:125930873-125930873 5:126595181-126595181
134 ALDH7A1 NM_001182.5(ALDH7A1):c.1163C>G (p.Ala388Gly)SNV Uncertain significance 565889 rs1561651205 5:125890016-125890016 5:126554324-126554324
135 ALDH7A1 NM_001182.5(ALDH7A1):c.119C>G (p.Ala40Gly)SNV Uncertain significance 569552 5:125930772-125930772 5:126595080-126595080
136 ALDH7A1 NM_001182.5(ALDH7A1):c.853A>G (p.Met285Val)SNV Uncertain significance 664979 5:125903969-125903969 5:126568277-126568277
137 ALDH7A1 NM_001182.5(ALDH7A1):c.843G>C (p.Gln281His)SNV Uncertain significance 653833 5:125903979-125903979 5:126568287-126568287
138 ALDH7A1 NM_001182.5(ALDH7A1):c.656G>C (p.Gly219Ala)SNV Uncertain significance 651528 5:125911151-125911151 5:126575459-126575459
139 ALDH7A1 NM_001182.5(ALDH7A1):c.430G>A (p.Val144Met)SNV Uncertain significance 640232 5:125918630-125918630 5:126582938-126582938
140 ALDH7A1 NM_001182.5(ALDH7A1):c.359C>A (p.Ala120Asp)SNV Uncertain significance 655901 5:125919658-125919658 5:126583966-126583966
141 ALDH7A1 NM_001182.5(ALDH7A1):c.952G>A (p.Ala318Thr)SNV Uncertain significance 569681 5:125894988-125894988 5:126559296-126559296
142 ALDH7A1 NM_001182.5(ALDH7A1):c.1356A>C (p.Lys452Asn)SNV Uncertain significance 580634 5:125885947-125885947 5:126550255-126550255
143 ALDH7A1 NM_001182.5(ALDH7A1):c.995C>G (p.Thr332Ser)SNV Uncertain significance 571248 5:125894945-125894945 5:126559253-126559253
144 ALDH7A1 NM_001182.5(ALDH7A1):c.247G>A (p.Ala83Thr)SNV Uncertain significance 580179 rs1561672611 5:125928421-125928421 5:126592729-126592729
145 ALDH7A1 NM_001182.5(ALDH7A1):c.936C>G (p.Ser312Arg)SNV Uncertain significance 582063 rs1561654302 5:125895004-125895004 5:126559312-126559312
146 ALDH7A1 NM_001182.5(ALDH7A1):c.987G>T (p.Arg329Ser)SNV Uncertain significance 569745 5:125894953-125894953 5:126559261-126559261
147 ALDH7A1 NM_001182.5(ALDH7A1):c.283G>A (p.Ala95Thr)SNV Uncertain significance 577460 5:125928385-125928385 5:126592693-126592693
148 ALDH7A1 NM_001182.5(ALDH7A1):c.1451A>G (p.Asn484Ser)SNV Uncertain significance 580444 rs1561648688 5:125885659-125885659 5:126549967-126549967
149 ALDH7A1 NM_001182.5(ALDH7A1):c.20C>T (p.Ala7Val)SNV Uncertain significance 571952 rs1561674305 5:125930871-125930871 5:126595179-126595179
150 ALDH7A1 NM_001182.5(ALDH7A1):c.16C>T (p.Arg6Cys)SNV Uncertain significance 565938 5:125930875-125930875 5:126595183-126595183
151 ALDH7A1 NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys)SNV Uncertain significance 623338 rs561343926 5:125882025-125882025 5:126546333-126546333
152 ALDH7A1 NM_001182.5(ALDH7A1):c.995C>T (p.Thr332Ile)SNV Uncertain significance 625885 rs543182575 5:125894945-125894945 5:126559253-126559253
153 ALDH7A1 NM_001182.5(ALDH7A1):c.244del (p.Gln82fs)deletion Uncertain significance 631953 rs1317880376 5:125929044-125929045 5:126593353-126593353
154 ALDH7A1 NM_001182.5(ALDH7A1):c.141_142insA (p.Arg48fs)insertion Uncertain significance 631954 rs1296037862 5:125930749-125930749 5:126595057-126595058
155 ALDH7A1 NM_001182.5(ALDH7A1):c.781A>G (p.Met261Val)SNV Uncertain significance 655666 5:125904041-125904041 5:126568349-126568349
156 ALDH7A1 NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys)SNV Uncertain significance 647989 5:125882034-125882034 5:126546342-126546342
157 ALDH7A1 NM_001182.5(ALDH7A1):c.1270G>A (p.Ala424Thr)SNV Uncertain significance 646374 5:125887760-125887760 5:126552068-126552068
158 ALDH7A1 NM_001182.5(ALDH7A1):c.1129G>A (p.Ala377Thr)SNV Uncertain significance 658110 5:125890050-125890050 5:126554358-126554358
159 ALDH7A1 NM_001182.5(ALDH7A1):c.1124A>G (p.Lys375Arg)SNV Uncertain significance 648971 5:125890055-125890055 5:126554363-126554363
160 ALDH7A1 NM_001182.5(ALDH7A1):c.417C>T (p.Ile139=)SNV Likely benign 533869 rs772201739 5:125918643-125918643 5:126582951-126582951
161 ALDH7A1 NM_001182.5(ALDH7A1):c.852G>C (p.Leu284=)SNV Likely benign 533868 rs747107627 5:125903970-125903970 5:126568278-126568278
162 ALDH7A1 NM_001182.5(ALDH7A1):c.871+8T>GSNV Likely benign 533870 rs750152298 5:125903943-125903943 5:126568251-126568251
163 ALDH7A1 NM_001182.5(ALDH7A1):c.423G>C (p.Val141=)SNV Likely benign 465330 rs199653162 5:125918637-125918637 5:126582945-126582945
164 ALDH7A1 NM_001182.5(ALDH7A1):c.*2254T>ASNV Likely benign 350539 rs76249070 5:125878403-125878403 5:126542711-126542711
165 ALDH7A1 NM_001182.4(ALDH7A1):c.-117G>TSNV Likely benign 350590 rs146562077 5:125931007-125931007 5:126595315-126595315
166 ALDH7A1 NM_001182.5(ALDH7A1):c.882G>C (p.Leu294=)SNV Likely benign 465334 rs751053781 5:125896806-125896806 5:126561114-126561114
167 ALDH7A1 NM_001182.5(ALDH7A1):c.1224T>C (p.Tyr408=)SNV Likely benign 416193 rs121912710 5:125887806-125887806 5:126552114-126552114
168 ALDH7A1 NM_001182.5(ALDH7A1):c.*548C>TSNV Likely benign 350576 rs1060856 5:125880109-125880109 5:126544417-126544417
169 ALDH7A1 NM_001182.5(ALDH7A1):c.*1741T>ASNV Likely benign 350547 rs744720 5:125878916-125878916 5:126543224-126543224
170 ALDH7A1 NM_001182.5(ALDH7A1):c.960C>T (p.Phe320=)SNV Likely benign 388986 rs114516357 5:125894980-125894980 5:126559288-126559288
171 ALDH7A1 NM_001182.5(ALDH7A1):c.1374C>T (p.Ser458=)SNV Likely benign 416194 rs978958073 5:125885929-125885929 5:126550237-126550237
172 ALDH7A1 NM_001182.5(ALDH7A1):c.*1672A>GSNV Likely benign 350551 rs78029541 5:125878985-125878985 5:126543293-126543293
173 ALDH7A1 NM_001182.5(ALDH7A1):c.*1112T>GSNV Likely benign 350559 rs80345302 5:125879545-125879545 5:126543853-126543853
174 ALDH7A1 NM_001182.5(ALDH7A1):c.*1804C>TSNV Likely benign 350543 rs744723 5:125878853-125878853 5:126543161-126543161
175 ALDH7A1 NM_001182.5(ALDH7A1):c.1201-8T>CSNV Likely benign 238616 rs558579795 5:125887837-125887837 5:126552145-126552145
176 ALDH7A1 NM_001182.5(ALDH7A1):c.*1368A>TSNV Likely benign 350556 rs115645125 5:125879289-125879289 5:126543597-126543597
177 ALDH7A1 NM_001182.5(ALDH7A1):c.518-12T>GSNV Benign/Likely benign 257610 rs79544459 5:125912915-125912915 5:126577223-126577223
178 ALDH7A1 NM_001182.5(ALDH7A1):c.858G>A (p.Val286=)SNV Benign/Likely benign 204820 rs150623275 5:125903964-125903964 5:126568272-126568272
179 ALDH7A1 NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=)SNV Benign/Likely benign 136379 rs201566142 5:125930852-125930852 5:126595160-126595160
180 ALDH7A1 NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=)SNV Benign/Likely benign 128349 rs57902950 5:125911132-125911132 5:126575440-126575440
181 ALDH7A1 NM_001182.5(ALDH7A1):c.243A>G (p.Arg81=)SNV Benign/Likely benign 136370 rs146438406 5:125929046-125929046 5:126593354-126593354
182 ALDH7A1 NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala)SNV Benign/Likely benign 128345 rs2306618 5:125887796-125887796 5:126552104-126552104
183 ALDH7A1 NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln)SNV Benign/Likely benign 128346 rs12514417 5:125887715-125887715 5:126552023-126552023
184 ALDH7A1 NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=)SNV Benign/Likely benign 128347 rs60720055 5:125928395-125928395 5:126592703-126592703
185 ALDH7A1 NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=)SNV Benign/Likely benign 377464 rs142975776 5:125887725-125887725 5:126552033-126552033
186 ALDH7A1 NM_001182.4(ALDH7A1):c.-60G>ASNV Benign/Likely benign 350588 rs144272515 5:125930950-125930950 5:126595258-126595258
187 ALDH7A1 NM_001182.4(ALDH7A1):c.-151C>TSNV Benign 350592 rs900640 5:125931041-125931041 5:126595349-126595349
188 ALDH7A1 NM_001182.5(ALDH7A1):c.*68A>GSNV Benign 350580 rs2775 5:125880589-125880589 5:126544897-126544897
189 ALDH7A1 NM_001182.5(ALDH7A1):c.*2997dupduplication Benign 350521 rs5871217 5:125877660-125877660 5:126541968-126541968
190 ALDH7A1 NM_001182.5(ALDH7A1):c.*818G>ASNV Benign 350570 rs1138005 5:125879839-125879839 5:126544147-126544147
191 ALDH7A1 NM_001182.5(ALDH7A1):c.*1749G>TSNV Benign 350544 rs744722 5:125878908-125878908 5:126543216-126543216
192 ALDH7A1 NM_001182.5(ALDH7A1):c.*807C>GSNV Benign 350571 rs1807 5:125879850-125879850 5:126544158-126544158
193 ALDH7A1 NM_001182.5(ALDH7A1):c.*726C>TSNV Benign 350572 rs1060857 5:125879931-125879931 5:126544239-126544239
194 ALDH7A1 NM_001182.5(ALDH7A1):c.*2499G>ASNV Benign 350531 rs7715516 5:125878158-125878158 5:126542466-126542466
195 ALDH7A1 NM_001182.5(ALDH7A1):c.*1702deldeletion Benign 350549 rs5871218 5:125878955-125878955 5:126543263-126543263
196 ALDH7A1 NM_001182.5(ALDH7A1):c.1009-6G>ASNV Benign 136373 rs138056453 5:125891713-125891713 5:126556021-126556021
197 ALDH7A1 NM_001182.5(ALDH7A1):c.*3022T>CSNV Benign 350520 rs2035471 5:125877635-125877635 5:126541943-126541943
198 ALDH7A1 NM_001182.5(ALDH7A1):c.*1748T>ASNV Benign 350546 rs744721 5:125878909-125878909 5:126543217-126543217
199 ALDH7A1 NM_001182.5(ALDH7A1):c.*1108G>ASNV Benign 350560 rs1483780 5:125879549-125879549 5:126543857-126543857
200 ALDH7A1 NM_001182.4(ALDH7A1):c.-132A>CSNV Benign 350591 rs900641 5:125931022-125931022 5:126595330-126595330

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Pyridoxine-Dependent:

73 (showing 8, show less)
# Symbol AA change Variation ID SNP ID
1 ALDH7A1 p.Ala199Val VAR_031718 rs121912709
2 ALDH7A1 p.Glu427Gln VAR_031719 rs121912707
3 ALDH7A1 p.Gly202Val VAR_069184
4 ALDH7A1 p.Gly291Glu VAR_069185
5 ALDH7A1 p.Asn301Ile VAR_069186 rs121912711
6 ALDH7A1 p.Arg335Gln VAR_069187 rs754449549
7 ALDH7A1 p.Val395Gly VAR_069188
8 ALDH7A1 p.Ser458Asn VAR_069189

Expression for Epilepsy, Pyridoxine-Dependent

Search GEO for disease gene expression data for Epilepsy, Pyridoxine-Dependent.

Pathways for Epilepsy, Pyridoxine-Dependent

Pathways related to Epilepsy, Pyridoxine-Dependent according to KEGG:

36 (showing 1, show less)
# Name Kegg Source Accession
1 Lysine degradation hsa00310

Pathways related to Epilepsy, Pyridoxine-Dependent according to GeneCards Suite gene sharing:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.15 GAD1 ALDH7A1

GO Terms for Epilepsy, Pyridoxine-Dependent

Molecular functions related to Epilepsy, Pyridoxine-Dependent according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 pyridoxal phosphate binding GO:0030170 8.62 PLPBP GAD1

Sources for Epilepsy, Pyridoxine-Dependent

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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39 LOVD
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50 NDF-RT
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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