MCID: EPL131
MIFTS: 37

Epilepsy, Pyridoxine-Dependent

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

Aliases & Classifications for Epilepsy, Pyridoxine-Dependent

MalaCards integrated aliases for Epilepsy, Pyridoxine-Dependent:

Name: Epilepsy, Pyridoxine-Dependent 57 25 13 40 73
Pyridoxine-Dependent Epilepsy 57 24 53 25 59 75 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 75
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
Orphanet 59 ORPHA3006
MESH via Orphanet 45 C536254
ICD10 via Orphanet 34 G40.8
UMLS via Orphanet 74 C1291560 C1849508
MedGen 42 C1849508
KEGG 37 H01247
UMLS 73 C1849508

Summaries for Epilepsy, Pyridoxine-Dependent

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.

MalaCards based summary : Epilepsy, Pyridoxine-Dependent, also known as pyridoxine-dependent epilepsy, is related to epilepsy and cystathioninuria, 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. Related phenotypes are intellectual disability and muscular hypotonia

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.

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)

UniProtKB/Swiss-Prot : 75 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 : 76 Pyridoxine-dependent epilepsy (PDE), also referred to as pyridoxine-dependent seizure (PDS) or vitamin... 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 all 24)
# Related Disease Score Top Affiliating Genes
1 epilepsy 29.5 ALDH7A1 PLPBP
2 cystathioninuria 10.9
3 microcephaly 10.1
4 anxiety 10.0
5 depression 10.0
6 hypophosphatasia 9.9
7 folinic acid-responsive seizures 9.9
8 ovarian cancer 9.9
9 postpartum depression 9.9
10 leukemia, chronic lymphocytic 2 9.9
11 leukemia, chronic lymphocytic 9.9
12 leukemia 9.9
13 retinitis 9.9
14 retinal degeneration 9.9
15 leukemia, b-cell, chronic 9.9
16 breast cancer 9.7
17 schizophrenia 9.7
18 lung cancer 9.7
19 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.7
20 neuroblastoma 9.7
21 muscular dystrophy, becker type 9.7
22 asthma 9.7
23 vascular dementia 9.7
24 muscular dystrophy 9.7

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



Diseases related to Epilepsy, Pyridoxine-Dependent

Symptoms & Phenotypes for Epilepsy, Pyridoxine-Dependent

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
status epilepticus
hypotonia
mental retardation
speech delay
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

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

UMLS symptoms related to Epilepsy, Pyridoxine-Dependent:


seizures, myoclonic seizures

Drugs & Therapeutics for Epilepsy, Pyridoxine-Dependent

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Neurodevelopmental Outcome of Early Dietary Lysine Restriction in Pyridoxine Dependent Epilepsy Patients 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

Publications for Epilepsy, Pyridoxine-Dependent

Articles related to Epilepsy, Pyridoxine-Dependent:

(show top 50) (show all 72)
# Title Authors Year
1
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy. ( 27856333 )
2017
2
Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child. ( 28131559 )
2017
3
Obstructive Hydrocephalus in Pyridoxine-Dependent Epilepsy: An Uncommon Complication. ( 28216032 )
2017
4
Pyridoxine-dependent epilepsy: report on three families with neuropathology. ( 27438048 )
2016
5
Current treatment and management of pyridoxine-dependent epilepsy. ( 25639976 )
2015
6
First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene. ( 26232297 )
2015
7
A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients. ( 26555630 )
2015
8
Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature. ( 27186704 )
2015
9
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. ( 26224730 )
2015
10
Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy. ( 25123644 )
2014
11
Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. ( 24613284 )
2014
12
Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. ( 24664145 )
2014
13
Long-Term Treatment Outcome of two Patients With Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Mutations: Normal Neurocognitive Outcome. ( 24789515 )
2014
14
Callosal alterations in pyridoxine-dependent epilepsy. ( 24942048 )
2014
15
Corpus callosum alterations in pyridoxine-dependent epilepsy: a mirror image of an ongoing disease? ( 24948334 )
2014
16
Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient. ( 24664088 )
2014
17
Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: l-arginine supplementation alternative to lysine-restricted diet. ( 25127453 )
2014
18
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. ( 24748525 )
2014
19
Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation. ( 23916709 )
2013
20
Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. ( 23953072 )
2013
21
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy. ( 23430810 )
2013
22
Congenital cataract in a child with pyridoxine-dependent epilepsy. ( 23602455 )
2013
23
Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene. ( 23376216 )
2013
24
Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations. ( 23683770 )
2013
25
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. ( 23350806 )
2013
26
Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene. ( 23925287 )
2013
27
Glial localization of antiquitin: Implications for pyridoxine-dependent epilepsy. ( 24122892 )
2013
28
Pyridoxine-dependent Epilepsy: An Often Unrecognized but Treatable cause of Intractable Seizures:Case report from Korle Bu Teaching Hospital, Accra, Ghana. ( 24122693 )
2013
29
Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome. ( 24184718 )
2013
30
Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy. ( 23054014 )
2013
31
Variability of phenotype in two sisters with pyridoxine dependent epilepsy. ( 22728861 )
2012
32
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. ( 23022070 )
2012
33
Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1. ( 22305855 )
2012
34
Natural history of pyridoxine-dependent epilepsy: tools for prognostication. ( 22803601 )
2012
35
Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy. ( 22371912 )
2012
36
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy. ( 23166088 )
2012
37
Pyridoxine dependent epilepsy: enduring mystery and continuing challenges. ( 22728846 )
2012
38
Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures. ( 21496129 )
2012
39
Pyridoxine-dependent epilepsy with elevated urinary I+-amino adipic semialdehyde in molybdenum cofactor deficiency. ( 23147983 )
2012
40
Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. ( 22784480 )
2012
41
Long-term outcome in pyridoxine-dependent epilepsy. ( 22804844 )
2012
42
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. ( 22529283 )
2012
43
A case of extreme prematurity and delayed diagnosis of pyridoxine-dependent epilepsy. ( 23022904 )
2012
44
Novel mutations in pyridoxine-dependent epilepsy. ( 20427214 )
2011
45
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. ( 21704546 )
2011
46
Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy. ( 21397171 )
2011
47
Roth spots in pyridoxine dependent epilepsy. ( 22688935 )
2011
48
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). ( 20554659 )
2010
49
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. ( 20370816 )
2010
50
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. ( 20814824 )
2010

Variations for Epilepsy, Pyridoxine-Dependent

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

75
# 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

ClinVar genetic disease variations for Epilepsy, Pyridoxine-Dependent:

6
(show top 50) (show all 271)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH7A1 ALDH7A1, IVS3DS, T-A, +2 single nucleotide variant Pathogenic
2 ALDH7A1 NM_001182.4(ALDH7A1): c.1279G> C (p.Glu427Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121912707 GRCh37 Chromosome 5, 125887751: 125887751
3 ALDH7A1 NM_001182.4(ALDH7A1): c.1279G> C (p.Glu427Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121912707 GRCh38 Chromosome 5, 126552059: 126552059
4 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh37 Chromosome 5, 125919689: 125919689
5 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh38 Chromosome 5, 126583997: 126583997
6 ALDH7A1 ALDH7A1, IVS5AS, G-C, -1 single nucleotide variant Pathogenic
7 ALDH7A1 NM_001182.4(ALDH7A1): c.596C> T (p.Ala199Val) single nucleotide variant Pathogenic rs121912709 GRCh37 Chromosome 5, 125912825: 125912825
8 ALDH7A1 NM_001182.4(ALDH7A1): c.596C> T (p.Ala199Val) single nucleotide variant Pathogenic rs121912709 GRCh38 Chromosome 5, 126577133: 126577133
9 ALDH7A1 NM_001182.4(ALDH7A1): c.1597delG (p.Ala533Profs) deletion Pathogenic rs387906574 GRCh37 Chromosome 5, 125880680: 125880680
10 ALDH7A1 NM_001182.4(ALDH7A1): c.1597delG (p.Ala533Profs) deletion Pathogenic rs387906574 GRCh38 Chromosome 5, 126544988: 126544988
11 ALDH7A1 NM_001182.4(ALDH7A1): c.1224T> G (p.Tyr408Ter) single nucleotide variant Pathogenic rs121912710 GRCh37 Chromosome 5, 125887806: 125887806
12 ALDH7A1 NM_001182.4(ALDH7A1): c.1224T> G (p.Tyr408Ter) single nucleotide variant Pathogenic rs121912710 GRCh38 Chromosome 5, 126552114: 126552114
13 ALDH7A1 NM_001182.4(ALDH7A1): c.902A> T (p.Asn301Ile) single nucleotide variant Pathogenic rs121912711 GRCh37 Chromosome 5, 125896786: 125896786
14 ALDH7A1 NM_001182.4(ALDH7A1): c.902A> T (p.Asn301Ile) single nucleotide variant Pathogenic rs121912711 GRCh38 Chromosome 5, 126561094: 126561094
15 ALDH7A1 ALDH7A1, 750G-A single nucleotide variant Pathogenic
16 ALDH7A1 NM_001182.4(ALDH7A1): c.1093+1G> A single nucleotide variant Pathogenic rs794727058 GRCh37 Chromosome 5, 125891622: 125891622
17 ALDH7A1 NM_001182.4(ALDH7A1): c.1093+1G> A single nucleotide variant Pathogenic rs794727058 GRCh38 Chromosome 5, 126555930: 126555930
18 ALDH7A1 NM_001182.4(ALDH7A1): c.1567A> G (p.Thr523Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61757684 GRCh37 Chromosome 5, 125880710: 125880710
19 ALDH7A1 NM_001182.4(ALDH7A1): c.1567A> G (p.Thr523Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61757684 GRCh38 Chromosome 5, 126545018: 126545018
20 ALDH7A1 NM_001182.4(ALDH7A1): c.1513G> C (p.Gly505Arg) single nucleotide variant Pathogenic rs556400964 GRCh38 Chromosome 5, 126546376: 126546376
21 ALDH7A1 NM_001182.4(ALDH7A1): c.1513G> C (p.Gly505Arg) single nucleotide variant Pathogenic rs556400964 GRCh37 Chromosome 5, 125882068: 125882068
22 ALDH7A1 NM_001182.4(ALDH7A1): c.1301A> G (p.Tyr434Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs747597620 GRCh38 Chromosome 5, 126552037: 126552037
23 ALDH7A1 NM_001182.4(ALDH7A1): c.1301A> G (p.Tyr434Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs747597620 GRCh37 Chromosome 5, 125887729: 125887729
24 ALDH7A1 NM_001182.4(ALDH7A1): c.1016A> G (p.His339Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199767457 GRCh38 Chromosome 5, 126556008: 126556008
25 ALDH7A1 NM_001182.4(ALDH7A1): c.1016A> G (p.His339Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199767457 GRCh37 Chromosome 5, 125891700: 125891700
26 ALDH7A1 NM_001182.4(ALDH7A1): c.1010T> G (p.Phe337Cys) single nucleotide variant Uncertain significance rs747834606 GRCh38 Chromosome 5, 126556014: 126556014
27 ALDH7A1 NM_001182.4(ALDH7A1): c.1010T> G (p.Phe337Cys) single nucleotide variant Uncertain significance rs747834606 GRCh37 Chromosome 5, 125891706: 125891706
28 ALDH7A1 NM_001182.4(ALDH7A1): c.858G> A (p.Val286=) single nucleotide variant Benign/Likely benign rs150623275 GRCh37 Chromosome 5, 125903964: 125903964
29 ALDH7A1 NM_001182.4(ALDH7A1): c.858G> A (p.Val286=) single nucleotide variant Benign/Likely benign rs150623275 GRCh38 Chromosome 5, 126568272: 126568272
30 ALDH7A1 NM_001182.4(ALDH7A1): c.664A> G (p.Thr222Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs777829351 GRCh38 Chromosome 5, 126575451: 126575451
31 ALDH7A1 NM_001182.4(ALDH7A1): c.664A> G (p.Thr222Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs777829351 GRCh37 Chromosome 5, 125911143: 125911143
32 ALDH7A1 NM_001182.4(ALDH7A1): c.542A> G (p.Gln181Arg) single nucleotide variant Uncertain significance rs796052257 GRCh38 Chromosome 5, 126577187: 126577187
33 ALDH7A1 NM_001182.4(ALDH7A1): c.542A> G (p.Gln181Arg) single nucleotide variant Uncertain significance rs796052257 GRCh37 Chromosome 5, 125912879: 125912879
34 ALDH7A1 NM_001182.4(ALDH7A1): c.364C> T (p.Arg122Trp) single nucleotide variant Uncertain significance rs370624118 GRCh38 Chromosome 5, 126583961: 126583961
35 ALDH7A1 NM_001182.4(ALDH7A1): c.364C> T (p.Arg122Trp) single nucleotide variant Uncertain significance rs370624118 GRCh37 Chromosome 5, 125919653: 125919653
36 ALDH7A1 NM_001182.4(ALDH7A1): c.203C> A (p.Thr68Asn) single nucleotide variant Uncertain significance rs58528748 GRCh38 Chromosome 5, 126593394: 126593394
37 ALDH7A1 NM_001182.4(ALDH7A1): c.203C> A (p.Thr68Asn) single nucleotide variant Uncertain significance rs58528748 GRCh37 Chromosome 5, 125929086: 125929086
38 ALDH7A1 NM_001182.4(ALDH7A1): c.200C> T (p.Thr67Met) single nucleotide variant Conflicting interpretations of pathogenicity rs543181020 GRCh38 Chromosome 5, 126593397: 126593397
39 ALDH7A1 NM_001182.4(ALDH7A1): c.200C> T (p.Thr67Met) single nucleotide variant Conflicting interpretations of pathogenicity rs543181020 GRCh37 Chromosome 5, 125929089: 125929089
40 ALDH7A1 NM_001182.4(ALDH7A1): c.56C> T (p.Ser19Phe) single nucleotide variant Uncertain significance rs566243475 GRCh38 Chromosome 5, 126595143: 126595143
41 ALDH7A1 NM_001182.4(ALDH7A1): c.56C> T (p.Ser19Phe) single nucleotide variant Uncertain significance rs566243475 GRCh37 Chromosome 5, 125930835: 125930835
42 ALDH7A1 NM_001182.4(ALDH7A1): c.31_33delCACinsGAG (p.His11Glu) indel Uncertain significance rs796052269 GRCh38 Chromosome 5, 126595166: 126595168
43 ALDH7A1 NM_001182.4(ALDH7A1): c.31_33delCACinsGAG (p.His11Glu) indel Uncertain significance rs796052269 GRCh37 Chromosome 5, 125930858: 125930860
44 ALDH7A1 NM_001182.4(ALDH7A1): c.1193G> T (p.Gly398Val) single nucleotide variant Pathogenic rs864622557 GRCh38 Chromosome 5, 126554294: 126554294
45 ALDH7A1 NM_001182.4(ALDH7A1): c.1193G> T (p.Gly398Val) single nucleotide variant Pathogenic rs864622557 GRCh37 Chromosome 5, 125889986: 125889986
46 ALDH7A1 NM_001182.4(ALDH7A1): c.986G> A (p.Arg329Lys) single nucleotide variant Pathogenic rs864622558 GRCh37 Chromosome 5, 125894954: 125894954
47 ALDH7A1 NM_001182.4(ALDH7A1): c.986G> A (p.Arg329Lys) single nucleotide variant Pathogenic rs864622558 GRCh38 Chromosome 5, 126559262: 126559262
48 ALDH7A1 NM_001182.4(ALDH7A1): c.584A> G (p.Asn195Ser) single nucleotide variant Pathogenic rs372660425 GRCh38 Chromosome 5, 126577145: 126577145
49 ALDH7A1 NM_001182.4(ALDH7A1): c.584A> G (p.Asn195Ser) single nucleotide variant Pathogenic rs372660425 GRCh37 Chromosome 5, 125912837: 125912837
50 ALDH7A1 NM_001182.4(ALDH7A1): c.1201-8T> C single nucleotide variant Likely benign rs558579795 GRCh38 Chromosome 5, 126552145: 126552145

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

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