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 global developmental delay

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:

(show top 50) (show all 185)
# Related Disease Score Top Affiliating Genes
1 visual epilepsy 29.7 SLC13A5 ALDH7A1
2 epilepsy 29.5 PLPBP GAD1 ALDH7A1
3 pyridoxamine 5-prime-phosphate oxidase deficiency 29.2 PLPBP ALDH7A1
4 striatal degeneration, autosomal dominant 1 11.3
5 cystathioninuria 11.2
6 postpartum depression 11.0
7 status epilepticus 10.5
8 impotence 10.5
9 depression 10.5
10 severe combined immunodeficiency 10.4
11 seizure disorder 10.4
12 mental depression 10.4
13 hydrocephalus 10.4
14 anxiety 10.3
15 major depressive disorder 10.3
16 mood disorder 10.3
17 west syndrome 10.3
18 hydrocephalus, congenital, 1 10.2
19 glycine encephalopathy 10.2
20 sensory peripheral neuropathy 10.2
21 lactic acidosis 10.2
22 pyridoxine deficiency anemia 10.2
23 hypoglycemia 10.2
24 hypotonia 10.2
25 myoclonus 10.2
26 pulmonary hypertension 10.2
27 sleeping sickness 10.2
28 retinitis pigmentosa 10.1
29 hepatitis c virus 10.1
30 neuroretinitis 10.1
31 heart disease 10.1
32 retinitis 10.1
33 congestive heart failure 10.1
34 cerebrovascular disease 10.1
35 ovarian cancer 10.1
36 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
37 asthma 10.1
38 major affective disorder 8 10.1
39 major affective disorder 9 10.1
40 dementia 10.1
41 personality disorder 10.1
42 endogenous depression 10.1
43 bipolar disorder 10.1
44 carotid artery disease 10.1
45 placenta disease 10.1
46 achalasia 10.1
47 corpus callosum, agenesis of 10.1
48 enterocolitis 10.1
49 hypophosphatasia, infantile 10.1
50 abnormal hair, joint laxity, and developmental delay 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:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
4 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
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 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
11 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
12 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
13 delayed speech and language development 31 HP:0000750
14 seizures 58 Very frequent (99-80%)
15 neonatal respiratory distress 31 HP:0002643
16 prenatal movement abnormality 31 HP:0001557
17 fetal distress 31 HP:0025116
18 respiratory distress 31 HP:0002098
19 generalized hypotonia 31 HP:0001290
20 bilateral tonic-clonic seizure 31 HP:0002069
21 generalized myoclonic seizure 31 HP:0002123

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):

(show all 18)
# 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 Trace Elements Phase 2
6 Vitamins Phase 2
7 Vitamin B 6 Phase 2
8 Vitamin B Complex Phase 2
9 Folate Phase 2
10 Nutrients Phase 2
11 Micronutrients Phase 2
12 Vitamin B9 Phase 2
13 Sodium Channel Blockers Phase 2
14 Psychotropic Drugs Phase 2
15 Anticonvulsants Phase 2
16 Diuretics, Potassium Sparing Phase 2
17 Neurotransmitter Agents Phase 2
18
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 Active, not 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:

(show top 50) (show all 203)
# Title Authors PMID Year
1
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1). 24 6 56 61
17721876 2007
2
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. 24 61 6 56
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. 24 56 6
16491085 2006
5
Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. 56 6
17088338 2007
6
A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. 56 24 61
10978228 2000
7
Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. 24 56
16075246 2005
8
Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures. 56 24
10908915 2000
9
Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants. 24 56
3977296 1985
10
Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. 56 24
13133562 1954
11
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency. 56 61
29061647 2017
12
Pyridoxine-Dependent Epilepsy 6 61
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. 61 24
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. 61 24
26995068 2016
17
Corpus Callosum Diffusion and Connectivity Features in High Functioning Subjects With Pyridoxine-Dependent Epilepsy. 24 61
26547255 2016
18
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. 24 61
26224730 2015
19
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome. 61 24
26026794 2015
20
Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet. 24 61
25127453 2014
21
Callosal alterations in pyridoxine-dependent epilepsy. 61 24
24942048 2014
22
Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. 24 61
24613284 2014
23
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. 24 61
24748525 2014
24
Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy. 61 24
24122892 2014
25
Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. 24 61
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
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy. 61 24
23166088 2012
29
Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. 24 61
23147983 2012
30
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. 24 61
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. 61 24
22804844 2012
33
Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. 61 24
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. 24 61
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. 24 61
19142996 2009
41
Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. 24 61
19294602 2008
42
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. 61 24
15944906 2005
43
Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. 61 24
10448181 1999
44
Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy. 61 24
9621518 1998
45
Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy. 61 24
7750075 1995
46
Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up. 61 24
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

Variations for Epilepsy, Pyridoxine-Dependent

ClinVar genetic disease variations for Epilepsy, Pyridoxine-Dependent:

6 (show top 50) (show all 297) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALDH7A1 NM_001182.5(ALDH7A1):c.503_506del (p.Ile168fs)deletion Pathogenic 420018 rs1064794241 5:125918554-125918557 5:126582862-126582865
2 ALDH7A1 NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu)SNV Pathogenic 410537 rs764417585 5:125912891-125912891 5:126577199-126577199
3 ALDH7A1 NM_001182.5(ALDH7A1):c.796C>T (p.Arg266Ter)SNV Pathogenic 465333 rs1270423610 5:125904026-125904026 5:126568334-126568334
4 ALDH7A1 NM_001182.5(ALDH7A1):c.532_542del (p.Leu178fs)deletion Pathogenic 465331 rs765119568 5:125912879-125912889 5:126577187-126577197
5 ALDH7A1 NM_001182.5(ALDH7A1):c.43_46dup (p.Ser16fs)duplication Pathogenic 574950 rs767805540 5:125930844-125930845 5:126595152-126595153
6 ALDH7A1 NM_001182.5(ALDH7A1):c.1003C>T (p.Arg335Ter)SNV Pathogenic 652356 5:125894937-125894937 5:126559245-126559245
7 ALDH7A1 NC_000005.10:g.(?_126575400)_(126575484_?)deldeletion Pathogenic 584164 5:125911092-125911176 5:126575400-126575484
8 ALDH7A1 NM_001182.5(ALDH7A1):c.1348G>T (p.Glu450Ter)SNV Pathogenic 837711 5:125885955-125885955 5:126550263-126550263
9 ALDH7A1 NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs)deletion Pathogenic 863921 5:125887728-125887729 5:126552036-126552037
10 ALDH7A1 NC_000005.10:g.(?_126582831)_(126584032_?)deldeletion Pathogenic 832420 5:125918523-125919724
11 ALDH7A1 NM_001182.5(ALDH7A1):c.1008+1G>ASNV Pathogenic 856181 5:125894931-125894931 5:126559239-126559239
12 ALDH7A1 NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter)SNV Pathogenic 17995 rs121912708 5:125919689-125919689 5:126583997-126583997
13 ALDH7A1 NM_001182.5(ALDH7A1):c.518-1G>CSNV Pathogenic 17996 rs779494572 5:125912904-125912904 5:126577212-126577212
14 ALDH7A1 NM_001182.5(ALDH7A1):c.312+2T>ASNV Pathogenic 17997 rs1561672504 5:125928354-125928354 5:126592662-126592662
15 ALDH7A1 NM_001182.5(ALDH7A1):c.596C>T (p.Ala199Val)SNV Pathogenic 17998 rs121912709 5:125912825-125912825 5:126577133-126577133
16 ALDH7A1 NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs)deletion Pathogenic 17999 rs387906574 5:125880680-125880680 5:126544988-126544988
17 ALDH7A1 NM_001182.5(ALDH7A1):c.1224T>G (p.Tyr408Ter)SNV Pathogenic 18000 rs121912710 5:125887806-125887806 5:126552114-126552114
18 ALDH7A1 NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile)SNV Pathogenic 18001 rs121912711 5:125896786-125896786 5:126561094-126561094
19 ALDH7A1 NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)SNV Pathogenic 18002 rs201948406 5:125903988-125903988 5:126568296-126568296
20 ALDH7A1 NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg)SNV Pathogenic 204852 rs556400964 5:125882068-125882068 5:126546376-126546376
21 ALDH7A1 NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln)SNV Pathogenic 204832 rs754449549 5:125894936-125894936 5:126559244-126559244
22 ALDH7A1 NM_001182.5(ALDH7A1):c.1193G>T (p.Gly398Val)SNV Pathogenic 220511 rs864622557 5:125889986-125889986 5:126554294-126554294
23 ALDH7A1 NM_001182.5(ALDH7A1):c.986G>A (p.Arg329Lys)SNV Pathogenic 220512 rs864622558 5:125894954-125894954 5:126559262-126559262
24 ALDH7A1 NM_001182.5(ALDH7A1):c.584A>G (p.Asn195Ser)SNV Pathogenic 219413 rs372660425 5:125912837-125912837 5:126577145-126577145
25 ALDH7A1 NM_001182.5(ALDH7A1):c.1566-1G>TSNV Pathogenic 374140 rs140845195 5:125880712-125880712 5:126545020-126545020
26 ALDH7A1 NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)SNV Pathogenic/Likely pathogenic 17994 rs121912707 5:125887751-125887751 5:126552059-126552059
27 ALDH7A1 NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser)SNV Pathogenic/Likely pathogenic 426363 rs779652673 5:125912832-125912832 5:126577140-126577140
28 ALDH7A1 NM_001182.5(ALDH7A1):c.246+1G>ASNV Likely pathogenic 449124 rs764588746 5:125929042-125929042 5:126593350-126593350
29 ALDH7A1 NM_001182.5(ALDH7A1):c.247-1G>CSNV Likely pathogenic 410540 rs1060502949 5:125928422-125928422 5:126592730-126592730
30 ALDH7A1 NM_001182.5(ALDH7A1):c.1200+1G>TSNV Likely pathogenic 465322 rs1217642695 5:125889978-125889978 5:126554286-126554286
31 ALDH7A1 NM_001182.5(ALDH7A1):c.192+3A>TSNV Likely pathogenic 465326 rs773814169 5:125930696-125930696 5:126595004-126595004
32 ALDH7A1 NM_001182.5(ALDH7A1):c.914-2A>CSNV Likely pathogenic 659324 5:125895028-125895028 5:126559336-126559336
33 ALDH7A1 NM_001182.5(ALDH7A1):c.332G>A (p.Gly111Glu)SNV Likely pathogenic 666201 5:125919685-125919685 5:126583993-126583993
34 ALDH7A1 NM_001182.5(ALDH7A1):c.192G>C (p.Glu64Asp)SNV Likely pathogenic 646791 5:125930699-125930699 5:126595007-126595007
35 ALDH7A1 NM_001182.5(ALDH7A1):c.987G>T (p.Arg329Ser)SNV Likely pathogenic 569745 rs761295869 5:125894953-125894953 5:126559261-126559261
36 ALDH7A1 NM_001182.5(ALDH7A1):c.898A>G (p.Asn300Asp)SNV Likely pathogenic 848984 5:125896790-125896790 5:126561098-126561098
37 ALDH7A1 NM_001182.5(ALDH7A1):c.1235C>T (p.Thr412Ile)SNV Conflicting interpretations of pathogenicity 835957 5:125887795-125887795 5:126552103-126552103
38 ALDH7A1 NM_001182.5(ALDH7A1):c.528T>C (p.His176=)SNV Conflicting interpretations of pathogenicity 697389 5:125912893-125912893 5:126577201-126577201
39 ALDH7A1 NM_001182.5(ALDH7A1):c.141_142insA (p.Arg48fs)insertion Conflicting interpretations of pathogenicity 631954 rs1296037862 5:125930749-125930750 5:126595057-126595058
40 ALDH7A1 NM_001182.5(ALDH7A1):c.1017T>C (p.His339=)SNV Conflicting interpretations of pathogenicity 512385 rs200394848 5:125891699-125891699 5:126556007-126556007
41 ALDH7A1 NM_001182.5(ALDH7A1):c.222C>T (p.Asn74=)SNV Conflicting interpretations of pathogenicity 517730 rs1007871645 5:125929067-125929067 5:126593375-126593375
42 ALDH7A1 NM_001182.5(ALDH7A1):c.423G>C (p.Val141=)SNV Conflicting interpretations of pathogenicity 465330 rs199653162 5:125918637-125918637 5:126582945-126582945
43 ALDH7A1 NM_001182.5(ALDH7A1):c.246+6A>TSNV Conflicting interpretations of pathogenicity 465327 rs759910341 5:125929037-125929037 5:126593345-126593345
44 ALDH7A1 NM_001182.5(ALDH7A1):c.354C>T (p.Gly118=)SNV Conflicting interpretations of pathogenicity 410539 rs149228266 5:125919663-125919663 5:126583971-126583971
45 ALDH7A1 NM_001182.5(ALDH7A1):c.*5G>ASNV Conflicting interpretations of pathogenicity 204823 rs759591318 5:125880652-125880652 5:126544960-126544960
46 SCN2A NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)SNV Conflicting interpretations of pathogenicity 130213 rs184769423 2:166170611-166170611 2:165314101-165314101
47 ALDH7A1 NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=)SNV Conflicting interpretations of pathogenicity 136368 rs369380330 5:125912806-125912806 5:126577114-126577114
48 ALDH7A1 NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=)SNV Conflicting interpretations of pathogenicity 136375 rs587780850 5:125887767-125887767 5:126552075-126552075
49 ALDH7A1 NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp)SNV Conflicting interpretations of pathogenicity 204863 rs370624118 5:125919653-125919653 5:126583961-126583961
50 ALDH7A1 NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met)SNV Conflicting interpretations of pathogenicity 204834 rs543181020 5:125929089-125929089 5:126593397-126593397

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

73
# 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
# Name Kegg Source Accession
1 Lysine degradation hsa00310

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

# 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:

# Name GO ID Score Top Affiliating Genes
1 pyridoxal phosphate binding GO:0030170 8.62 PLPBP GAD1

Sources for Epilepsy, Pyridoxine-Dependent

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