EPD
MCID: EPL131
MIFTS: 47

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 57 25 13 40 72
Pyridoxine-Dependent Epilepsy 57 24 53 25 59 74 37 29 6
Vitamin B6-Dependent Seizures 24 53 25 59
Pyridoxine Dependency with Seizures 57 53 25
Pyridoxine Dependency 24 53 25
Pde 57 25 74
Aasa Dehydrogenase Deficiency 57 25
Pyridoxine-Dependent Seizures 24 25
Antiquitin Deficiency 53 59
Epd 57 25
Pyridoxine-Dependent Epilepsy; Pde 57

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
epilepsy, pyridoxine-dependent:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 266100
KEGG 37 H01247
MESH via Orphanet 45 C536254
ICD10 via Orphanet 34 G40.8
UMLS via Orphanet 73 C1291560 C1849508
Orphanet 59 ORPHA3006
MedGen 42 C1849508
UMLS 72 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 epilepsy and striatal degeneration, autosomal dominant 1, 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 is Lysine degradation. 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 : 53 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 : 57 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 : 37
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 : 74 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 : 75 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:

(show top 50) (show all 183)
# Related Disease Score Top Affiliating Genes
1 epilepsy 29.4 PLPBP ALDH7A1
2 striatal degeneration, autosomal dominant 1 11.3
3 cystathioninuria 11.2
4 postpartum depression 10.9
5 alacrima, achalasia, and mental retardation syndrome 10.6
6 status epilepticus 10.5
7 encephalopathy 10.5
8 impotence 10.5
9 depression 10.5
10 severe combined immunodeficiency 10.4
11 mental depression 10.4
12 west syndrome 10.3
13 hydrocephalus 10.3
14 congenital hydrocephalus 10.3
15 major depressive disorder 10.3
16 hydrocephalus, congenital, 1 10.2
17 organic acidemia 10.2
18 sensory peripheral neuropathy 10.2
19 lactic acidosis 10.2
20 pyridoxine deficiency anemia 10.2
21 hypoglycemia 10.2
22 hypotonia 10.2
23 myoclonus 10.2
24 folinic acid-responsive seizures 10.2
25 visual epilepsy 10.2
26 seizure disorder 10.2
27 anxiety 10.2
28 mood disorder 10.2
29 pulmonary disease, chronic obstructive 10.2
30 pulmonary hypertension 10.2
31 sleeping sickness 10.2
32 heart disease 10.2
33 congestive heart failure 10.2
34 retinitis pigmentosa 10.1
35 hepatitis c virus 10.1
36 neuroretinitis 10.1
37 retinitis 10.1
38 corpus callosum, agenesis of 10.1
39 enterocolitis 10.1
40 hypophosphatasia, infantile 10.1
41 yemenite deaf-blind hypopigmentation syndrome 10.1
42 glycine encephalopathy 10.1
43 pyridoxamine 5-prime-phosphate oxidase deficiency 10.1
44 asparagine synthetase deficiency 10.1
45 withdrawal disorder 10.1
46 molybdenum cofactor deficiency 10.1
47 cortical blindness 10.1
48 obstructive hydrocephalus 10.1
49 hypophosphatasia 10.1
50 cataract 10.1

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:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
3 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
4 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
5 abnormality of metabolism/homeostasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001939
6 abnormality of movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0100022
7 status epilepticus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002133
8 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
9 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
10 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
11 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
12 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
13 seizures 59 Very frequent (99-80%)
14 delayed speech and language development 32 HP:0000750
15 generalized hypotonia 32 HP:0001290
16 generalized myoclonic seizures 32 HP:0002123
17 respiratory distress 32 HP:0002098
18 generalized tonic-clonic seizures 32 HP:0002069
19 neonatal respiratory distress 32 HP:0002643
20 prenatal movement abnormality 32 HP:0001557
21 fetal distress 32 HP:0025116

Symptoms via clinical synopsis from OMIM:

57
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):

(show all 23)
# 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
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
4
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
5 Micronutrients Phase 2
6 Trace Elements Phase 2
7 Vitamins Phase 2
8 Vitamin B Complex Phase 2
9 Vitamin B9 Phase 2
10 Vitamin B 6 Phase 2
11 Nutrients Phase 2
12 Folate Phase 2
13 Neurotransmitter Agents Phase 2
14 Sodium Channel Blockers Phase 2
15 Tranquilizing Agents Phase 2
16 Central Nervous System Depressants Phase 2
17 GABA Agents Phase 2
18 Diuretics, Potassium Sparing Phase 2
19 Cytochrome P-450 Enzyme Inducers Phase 2
20 Antimanic Agents Phase 2
21 Psychotropic Drugs Phase 2
22 Anticonvulsants Phase 2
23
Pyridoxal Experimental, Nutraceutical Phase 2 66-72-8 1050

Interventional clinical trials:


# 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:

41
Brain, Testes, Kidney

Publications for Epilepsy, Pyridoxine-Dependent

Articles related to Epilepsy, Pyridoxine-Dependent:

(show top 50) (show all 188)
# Title Authors PMID Year
1
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1). 38 4 8 71
17721876 2007
2
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. 38 4 8 71
17068770 2007
3
Epidemiology of pyridoxine dependent seizures in the Netherlands. 38 4 8 71
16159904 2005
4
Mutations in antiquitin in individuals with pyridoxine-dependent seizures. 4 8 71
16491085 2006
5
Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. 8 71
17088338 2007
6
A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. 38 4 8
10978228 2000
7
Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. 4 8
16075246 2005
8
Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures. 4 8
10908915 2000
9
Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants. 4 8
3977296 1985
10
Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. 4 8
13133562 1954
11
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency. 38 8
29061647 2017
12
Pyridoxine-Dependent Epilepsy 38 71
20301659 2001
13
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. 38 4
27912044 2016
14
Pyridoxine-dependent epilepsy: report on three families with neuropathology. 38 4
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. 38 4
27212567 2016
16
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum. 38 4
26995068 2016
17
Corpus Callosum Diffusion and Connectivity Features in High Functioning Subjects With Pyridoxine-Dependent Epilepsy. 38 4
26547255 2016
18
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. 38 4
26224730 2015
19
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome. 38 4
26026794 2015
20
Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet. 38 4
25127453 2014
21
Callosal alterations in pyridoxine-dependent epilepsy. 38 4
24942048 2014
22
Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. 38 4
24613284 2014
23
Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy. 38 4
24122892 2014
24
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. 38 4
24748525 2014
25
Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. 38 4
23953072 2013
26
Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene. 38 4
23376216 2013
27
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. 38 4
23350806 2013
28
Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. 38 4
23147983 2012
29
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy. 38 4
23166088 2012
30
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. 38 4
23022070 2012
31
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. 38 4
22403017 2012
32
Long-term outcome in pyridoxine-dependent epilepsy. 38 4
22804844 2012
33
Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. 38 4
22784480 2012
34
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. 38 4
21704546 2011
35
The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy. 38 4
20887371 2010
36
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. 38 4
20814824 2010
37
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. 38 4
20370816 2010
38
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). 38 4
20554659 2010
39
Electroencephalographic changes in pyridoxine-dependant epilepsy: new observations. 38 4
20031502 2009
40
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. 38 4
19142996 2009
41
Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. 38 4
19294602 2008
42
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. 38 4
15944906 2005
43
Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. 38 4
10448181 1999
44
Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy. 38 4
9621518 1998
45
Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy. 38 4
7750075 1995
46
Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up. 38 4
1707793 1991
47
Late-onset pyridoxine-dependency convulsions. 8
6651254 1983
48
Pyridoxine-dependency seizure: report of a rare presentation. 8
6830153 1983
49
Vitamin B 6 -dependency of glutamic acid decarboxylase in the kidney from a patient with vitamin B 6 dependent convulsion. 8
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. 8
5262035 1969

Variations for Epilepsy, Pyridoxine-Dependent

ClinVar genetic disease variations for Epilepsy, Pyridoxine-Dependent:

6 (show top 50) (show all 200)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ALDH7A1 NM_001182.5(ALDH7A1): c.1566-1G> T single nucleotide variant Pathogenic rs140845195 5:125880712-125880712 5:126545020-126545020
2 ALDH7A1 NM_001182.5(ALDH7A1): c.530C> A (p.Ala177Glu) single nucleotide variant Pathogenic rs764417585 5:125912891-125912891 5:126577199-126577199
3 ALDH7A1 NM_001182.5(ALDH7A1): c.796C> T (p.Arg266Ter) single nucleotide variant Pathogenic rs1270423610 5:125904026-125904026 5:126568334-126568334
4 ALDH7A1 NM_001182.5(ALDH7A1): c.532_542del (p.Leu178fs) deletion Pathogenic rs765119568 5:125912879-125912889 5:126577187-126577197
5 ALDH7A1 NM_001182.5(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 5:125919689-125919689 5:126583997-126583997
6 ALDH7A1 NM_001182.5(ALDH7A1): c.518-1G> C single nucleotide variant Pathogenic 5:125912904-125912904 5:126577212-126577212
7 ALDH7A1 NM_001182.5(ALDH7A1): c.312+2T> A single nucleotide variant Pathogenic 5:125928354-125928354 5:126592662-126592662
8 ALDH7A1 NM_001182.5(ALDH7A1): c.596C> T (p.Ala199Val) single nucleotide variant Pathogenic rs121912709 5:125912825-125912825 5:126577133-126577133
9 ALDH7A1 NM_001182.5(ALDH7A1): c.1597del (p.Ala533fs) deletion Pathogenic rs387906574 5:125880680-125880680 5:126544988-126544988
10 ALDH7A1 NM_001182.5(ALDH7A1): c.1224T> G (p.Tyr408Ter) single nucleotide variant Pathogenic rs121912710 5:125887806-125887806 5:126552114-126552114
11 ALDH7A1 NM_001182.5(ALDH7A1): c.902A> T (p.Asn301Ile) single nucleotide variant Pathogenic rs121912711 5:125896786-125896786 5:126561094-126561094
12 ALDH7A1 NM_001182.5(ALDH7A1): c.834G> A (p.Val278=) single nucleotide variant Pathogenic 5:125903988-125903988 5:126568296-126568296
13 ALDH7A1 NM_001182.5(ALDH7A1): c.1513G> C (p.Gly505Arg) single nucleotide variant Pathogenic rs556400964 5:125882068-125882068 5:126546376-126546376
14 ALDH7A1 NM_001182.5(ALDH7A1): c.1193G> T (p.Gly398Val) single nucleotide variant Pathogenic rs864622557 5:125889986-125889986 5:126554294-126554294
15 ALDH7A1 NM_001182.5(ALDH7A1): c.986G> A (p.Arg329Lys) single nucleotide variant Pathogenic rs864622558 5:125894954-125894954 5:126559262-126559262
16 ALDH7A1 NM_001182.5(ALDH7A1): c.584A> G (p.Asn195Ser) single nucleotide variant Pathogenic rs372660425 5:125912837-125912837 5:126577145-126577145
17 ALDH7A1 NM_001182.5(ALDH7A1): c.43_46dup (p.Ser16fs) duplication Pathogenic 5:125930845-125930848 5:126595153-126595156
18 ALDH7A1 NM_001182.5(ALDH7A1): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic 5:125894937-125894937 5:126559245-126559245
19 ALDH7A1 NC_000005.9: g.(?_125911092)_(125911176_?)del deletion Pathogenic 5:125911092-125911176 5:126575400-126575484
20 ALDH7A1 NM_001182.5(ALDH7A1): c.1279G> C (p.Glu427Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121912707 5:125887751-125887751 5:126552059-126552059
21 ALDH7A1 NM_001182.5(ALDH7A1): c.589C> T (p.Pro197Ser) single nucleotide variant Pathogenic/Likely pathogenic rs779652673 5:125912832-125912832 5:126577140-126577140
22 ALDH7A1 NM_001182.5(ALDH7A1): c.246+1G> A single nucleotide variant Likely pathogenic rs764588746 5:125929042-125929042 5:126593350-126593350
23 ALDH7A1 NM_001182.5(ALDH7A1): c.247-1G> C single nucleotide variant Likely pathogenic rs1060502949 5:125928422-125928422 5:126592730-126592730
24 ALDH7A1 NM_001182.5(ALDH7A1): c.192+3A> T single nucleotide variant Likely pathogenic rs773814169 5:125930696-125930696 5:126595004-126595004
25 ALDH7A1 NM_001182.5(ALDH7A1): c.1200+1G> T single nucleotide variant Likely pathogenic rs1217642695 5:125889978-125889978 5:126554286-126554286
26 ALDH7A1 NM_001182.5(ALDH7A1): c.332G> A (p.Gly111Glu) single nucleotide variant Likely pathogenic 5:125919685-125919685 5:126583993-126583993
27 ALDH7A1 NM_001182.5(ALDH7A1): c.914-2A> C single nucleotide variant Likely pathogenic 5:125895028-125895028 5:126559336-126559336
28 ALDH7A1 NM_001182.5(ALDH7A1): c.313-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201720741 5:125919719-125919719 5:126584027-126584027
29 ALDH7A1 NM_001182.5(ALDH7A1): c.246+6A> T single nucleotide variant Conflicting interpretations of pathogenicity rs759910341 5:125929037-125929037 5:126593345-126593345
30 ALDH7A1 NM_001182.5(ALDH7A1): c.34del (p.Ala12fs) deletion Conflicting interpretations of pathogenicity rs750693623 5:125930857-125930857 5:126595165-126595165
31 ALDH7A1 NM_001182.5(ALDH7A1): c.354C> T (p.Gly118=) single nucleotide variant Conflicting interpretations of pathogenicity rs149228266 5:125919663-125919663 5:126583971-126583971
32 ALDH7A1 NM_001182.5(ALDH7A1): c.1301A> G (p.Tyr434Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs747597620 5:125887729-125887729 5:126552037-126552037
33 ALDH7A1 NM_001182.5(ALDH7A1): c.1263G> A (p.Ala421=) single nucleotide variant Conflicting interpretations of pathogenicity rs587780850 5:125887767-125887767 5:126552075-126552075
34 ALDH7A1 NM_001182.4(ALDH7A1): c.-29T> C single nucleotide variant Conflicting interpretations of pathogenicity rs556650006 5:125930919-125930919 5:126595227-126595227
35 ALDH7A1 NM_001182.5(ALDH7A1): c.1567A> G (p.Thr523Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61757684 5:125880710-125880710 5:126545018-126545018
36 ALDH7A1 NM_001182.5(ALDH7A1): c.1022G> A (p.Ser341Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs141701364 5:125891694-125891694 5:126556002-126556002
37 ALDH7A1 NM_001182.5(ALDH7A1): c.1016A> G (p.His339Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199767457 5:125891700-125891700 5:126556008-126556008
38 ALDH7A1 NM_001182.5(ALDH7A1): c.1004G> A (p.Arg335Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs754449549 5:125894936-125894936 5:126559244-126559244
39 ALDH7A1 NM_001182.5(ALDH7A1): c.664A> G (p.Thr222Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs777829351 5:125911143-125911143 5:126575451-126575451
40 ALDH7A1 NM_001182.5(ALDH7A1): c.373A> G (p.Ile125Val) single nucleotide variant Conflicting interpretations of pathogenicity rs117295656 5:125919644-125919644 5:126583952-126583952
41 SCN2A NM_001040142.2(SCN2A): c.1376A> C (p.Glu459Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs184769423 2:166170611-166170611 2:165314101-165314101
42 ALDH7A1 NM_001182.5(ALDH7A1): c.615C> T (p.Asn205=) single nucleotide variant Conflicting interpretations of pathogenicity rs369380330 5:125912806-125912806 5:126577114-126577114
43 ALDH7A1 NM_001182.5(ALDH7A1): c.200C> T (p.Thr67Met) single nucleotide variant Conflicting interpretations of pathogenicity rs543181020 5:125929089-125929089 5:126593397-126593397
44 ALDH7A1 NM_001182.5(ALDH7A1): c.1406G> A (p.Arg469His) single nucleotide variant Conflicting interpretations of pathogenicity rs147940248 5:125885897-125885897 5:126550205-126550205
45 ALDH7A1 NM_001182.5(ALDH7A1): c.575C> T (p.Thr192Met) single nucleotide variant Conflicting interpretations of pathogenicity rs376917645 5:125912846-125912846 5:126577154-126577154
46 ALDH7A1 NM_001182.5(ALDH7A1): c.63T> C (p.Pro21=) single nucleotide variant Conflicting interpretations of pathogenicity rs368427726 5:125930828-125930828 5:126595136-126595136
47 POMT1 NM_007171.3(POMT1): c.855G> C (p.Leu285Phe) single nucleotide variant Uncertain significance rs201073763 9:134385736-134385736 9:131510349-131510349
48 ALDH7A1 NM_001182.5(ALDH7A1): c.1066C> G (p.Gln356Glu) single nucleotide variant Uncertain significance rs138675705 5:125891650-125891650 5:126555958-126555958
49 ALDH7A1 NM_001182.5(ALDH7A1): c.*2464dup duplication Uncertain significance rs200155555 5:125878193-125878193 5:126542501-126542501
50 ALDH7A1 NM_001182.5(ALDH7A1): c.*2387A> G single nucleotide variant Uncertain significance rs116566135 5:125878270-125878270 5:126542578-126542578

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

74
# 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:

37
# Name Kegg Source Accession
1 Lysine degradation hsa00310

GO Terms for Epilepsy, Pyridoxine-Dependent

Sources for Epilepsy, Pyridoxine-Dependent

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73 UMLS via Orphanet
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