EPD
MCID: PYR014
MIFTS: 49

Pyridoxine-Dependent Epilepsy (EPD) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Pyridoxine-Dependent Epilepsy

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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).Ā 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).Ā mutations in the aldh7a1 gene cause pyridoxine-dependent epilepsy. this geneĀ is inherited in an autosomal recessive fashion. last updated: 7/23/2013

MalaCards: Pyridoxine-Dependent Epilepsy, also known as epilepsy, pyridoxine-dependent, is related to glutamate decarboxylase deficiency and status epilepticus, and has symptoms including dilated cerebral ventricles without hydrocephaly, strabismus/squint and movement disorder. An important gene associated with Pyridoxine-Dependent Epilepsy is ALDH7A1 (aldehyde dehydrogenase 7 family, member A1), and among its related pathways are Metabolism and beta-Alanine metabolism. The compounds beta-alanine and nadph have been mentioned in the context of this disorder. Affiliated tissues include liver, and related mouse phenotype normal.

Genetics Home Reference:22 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.

Wikipedia:66 Pyridoxine-dependent epilepsy (PDE), also referred to as pyridoxine-dependent seizure (PDS) or vitamin... more...

Description from OMIM:48 266100

GeneReviews summary for pds

Aliases & Classifications for Pyridoxine-Dependent Epilepsy

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 50Orphanet, 48OMIM, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
pyridoxine-dependent epilepsy:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pyridoxine-dependent epilepsy 20 44 21 23 22 50
epilepsy, pyridoxine-dependent 22 48 63
vitamin b6-dependent seizures 20 44 22
pyridoxine dependency 20 44 22
pyridoxine dependency with seizures 44 22
pyridoxine-dependent seizures 20 22
glutamate decarboxylase deficiency 50
pyridoxine-responsive seizures 50
vitamin b6-responsive seizures 50
aasa dehydrogenase deficiency 22
epd 22
pde 22


External Ids:

OMIM48 266100
MESH via Orphanet37 C536254
ICD10 via Orphanet27 G40.8
SNOMED-CT via Orphanet60 124596009
UMLS via Orphanet64 C1291560, C1849508

Related Diseases for Pyridoxine-Dependent Epilepsy

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Pyridoxine-Dependent Epilepsy:



Diseases related to pyridoxine-dependent epilepsy

Symptoms for Pyridoxine-Dependent Epilepsy

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

266100

Clinical features from OMIM:

266100

Symptoms:

50 (show all 12)
  • dilated cerebral ventricles without hydrocephaly
  • strabismus/squint
  • movement disorder
  • metabolic anomalies
  • hepatomegaly/liver enlargement (excluding storage disease)
  • hypotonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • eeg anomalies
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • autosomal recessive inheritance

Drugs & Therapeutics for Pyridoxine-Dependent Epilepsy

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Pyridoxine-Dependent Epilepsy

Search NIH Clinical Center for Pyridoxine-Dependent Epilepsy

Search CenterWatch for Pyridoxine-Dependent Epilepsy

Genetic Tests for Pyridoxine-Dependent Epilepsy

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21GeneTests, 23GTR
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Genetic tests related to Pyridoxine-Dependent Epilepsy:

id Genetic test Affiliating Genes
1 Pyridoxine-Dependent Epilepsy21 23 ALDH7A1

Anatomical Context for Pyridoxine-Dependent Epilepsy

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34MalaCards
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MalaCards organs/tissues related to Pyridoxine-Dependent Epilepsy:

34
Liver

Animal Models for Pyridoxine-Dependent Epilepsy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Pyridoxine-Dependent Epilepsy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028739.1GAD1, ALDH7A1

Publications for Pyridoxine-Dependent Epilepsy

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53PubMed
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Articles related to Pyridoxine-Dependent Epilepsy:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. (23350806)
2013
2
Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy. (23054014)
2013
3
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy. (23430810)
2013
4
Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. (23953072)
2013
5
Congenital cataract in a child with pyridoxine-dependent epilepsy. (23602455)
2013
6
Pyridoxine-dependent Epilepsy: An Often Unrecognized but Treatable cause of Intractable Seizures:Case report from Korle Bu Teaching Hospital, Accra, Ghana. (24122693)
2013
7
Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene. (23925287)
2013
8
Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation. (23916709)
2013
9
Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations. (23683770)
2013
10
Glial localization of antiquitin: Implications for pyridoxine-dependent epilepsy. (24122892)
2013
11
Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene. (23376216)
2013
12
Pyridoxine dependent epilepsy: enduring mystery and continuing challenges. (22728846)
2012
13
Variability of phenotype in two sisters with pyridoxine dependent epilepsy. (22728861)
2012
14
Long-term outcome in pyridoxine-dependent epilepsy. (22804844)
2012
15
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy. (23166088)
2012
16
Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1. (22305855)
2012
17
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. (22529283)
2012
18
Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. (22784480)
2012
19
Pyridoxine-dependent epilepsy with elevated urinary I+-amino adipic semialdehyde in molybdenum cofactor deficiency. (23147983)
2012
20
Natural history of pyridoxine-dependent epilepsy: tools for prognostication. (22803601)
2012
21
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. (23022070)
2012
22
Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures. (21496129)
2012
23
A case of extreme prematurity and delayed diagnosis of pyridoxine-dependent epilepsy. (23022904)
2012
24
Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy. (22371912)
2012
25
Roth spots in pyridoxine dependent epilepsy. (22688935)
2011
26
Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy. (21397171)
2011
27
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. (20370816)
2010
28
Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics. (20412262)
2010
29
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. (20814824)
2010
30
The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy. (20887371)
2010
31
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). (20554659)
2010
32
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. (19142996)
2009
33
Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. (19294602)
2008
34
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. (17068770)
2007
35
Pyridoxine-dependent epilepsy initially responsive to phenobarbital. (18094870)
2007
36
Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency. (17560822)
2007
37
Focal status epilepticus as atypical presentation of pyridoxine-dependent epilepsy. (16225819)
2005
38
Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy. (16178031)
2005
39
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. (15944906)
2005
40
A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. (10978228)
2000
41
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. (10894227)
2000
42
Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. (11012277)
2000
43
Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. (10448181)
1999
44
A subtype of pyridoxine-dependent epilepsy with normal CSF glutamate concentration. (9700605)
1998
45
Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy. (9621518)
1998
46
Pyridoxine-dependent epilepsy: the need for repeated pyridoxine trials and the risk of severe electrocerebral suppression with intravenous pyridoxine infusion. (8877616)
1996
47
Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy. (7750075)
1995
48
Glutamate in pyridoxine-dependent epilepsy: neurotoxic glutamate concentration in the cerebrospinal fluid and its normalization by pyridoxine. (7915028)
1994
49
Pyridoxine-Dependent Epilepsy (20301659)
1993
50
Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up. (1707793)
1991

Variations for Pyridoxine-Dependent Epilepsy

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Pyridoxine-Dependent Epilepsy:

65
id Symbol AA change Variation ID SNP ID
1ALDH7A1p.Ala199ValVAR_031718
2ALDH7A1p.Glu427GlnVAR_031719rs121912707
3ALDH7A1p.Gly202ValVAR_069184
4ALDH7A1p.Gly291GluVAR_069185
5ALDH7A1p.Asn301IleVAR_069186
6ALDH7A1p.Arg335GlnVAR_069187
7ALDH7A1p.Val395GlyVAR_069188
8ALDH7A1p.Ser458AsnVAR_069189

Clinvar genetic disease variations for Pyridoxine-Dependent Epilepsy:

1
id Gene Name Type Significance SNP ID Assembly Location
1ALDH7A1NM_001182.4(ALDH7A1): c.1279G> C (p.Glu427Gln)single nucleotide variantPathogenicrs121912707GRCh37Chr 5, 125887751: 125887751
2ALDH7A1NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter)single nucleotide variantPathogenicrs121912708GRCh37Chr 5, 125919689: 125919689
3ALDH7A1ALDH7A1, IVS5AS, G-C, -1single nucleotide variantPathogenic
4ALDH7A1ALDH7A1, IVS3DS, T-A, +2single nucleotide variantPathogenic
5ALDH7A1NM_001182.4(ALDH7A1): c.596C> T (p.Ala199Val)single nucleotide variantPathogenicrs121912709GRCh37Chr 5, 125912825: 125912825
6ALDH7A1NM_001182.4(ALDH7A1): c.1597delG (p.Ala533Profs)deletionPathogenicrs387906574GRCh37Chr 5, 125880680: 125880680
7ALDH7A1NM_001182.4(ALDH7A1): c.1224T> G (p.Tyr408Ter)single nucleotide variantPathogenicrs121912710GRCh37Chr 5, 125887806: 125887806
8ALDH7A1NM_001182.4(ALDH7A1): c.902A> T (p.Asn301Ile)single nucleotide variantPathogenicrs121912711GRCh37Chr 5, 125896786: 125896786
9ALDH7A1ALDH7A1, 750G-Asingle nucleotide variantPathogenic

Expression for genes affiliated with Pyridoxine-Dependent Epilepsy

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pyridoxine-Dependent Epilepsy

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Pathways for genes affiliated with Pyridoxine-Dependent Epilepsy

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51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database
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Pathways related to Pyridoxine-Dependent Epilepsy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1GAD1, ALDH7A1
2
Show member pathways
phenylethylamine degradation I39
9.1GAD1, ALDH7A1

Compounds for genes affiliated with Pyridoxine-Dependent Epilepsy

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46Novoseek, 62Tocris Bioscience, 30IUPHAR, 25HMDB, 12DrugBank
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Compounds related to Pyridoxine-Dependent Epilepsy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1beta-alanine46 62 30 25 1213.1GAD1, ALDH7A1
2nadph46 2510.1GAD1, ALDH7A1
3Gamma-Aminobutyric acid259.0GAD1, ALDH7A1
4vitamin b6468.8GAD1, ALDH7A1

GO Terms for genes affiliated with Pyridoxine-Dependent Epilepsy

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17Gene Ontology
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Cellular components related to Pyridoxine-Dependent Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057399.1GAD1, ALDH7A1

Products for genes affiliated with Pyridoxine-Dependent Epilepsy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pyridoxine-Dependent Epilepsy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet