EPD
MCID: PYR014
MIFTS: 50

Pyridoxine-Dependent Epilepsy (EPD) malady

Neuronal diseases, Metabolic diseases categories

Summaries for Pyridoxine-Dependent Epilepsy

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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. last updated: 7/23/2013

MalaCards: Pyridoxine-Dependent Epilepsy, also known as epilepsy, pyridoxine-dependent, is related to status epilepticus and glutamate decarboxylase deficiency, 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 is beta-Alanine metabolism. The compounds nadph and beta-alanine have been mentioned in the context of this disorder. Affiliated tissues include liver, and related mouse phenotype normal.

Genetics Home Reference:21 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:63 Pyridoxine-dependent epilepsy (PDE, EPD) or pyridoxine-dependent seizure (PDS) is an extremely rare... more...

Description from OMIM:46 266100

GeneReviews summary for pds

Aliases & Classifications for Pyridoxine-Dependent Epilepsy

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 48Orphanet, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
pyridoxine-dependent epilepsy:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pyridoxine-dependent epilepsy 19 42 20 22 21 48
epilepsy, pyridoxine-dependent 21 46 60
vitamin b6-dependent seizures 19 42 21
pyridoxine dependency 19 42 21
pyridoxine dependency with seizures 42 21
pyridoxine-dependent seizures 19 21
glutamate decarboxylase deficiency 48
pyridoxine-responsive seizures 48
vitamin b6-responsive seizures 48
aasa dehydrogenase deficiency 21
epd 21
pde 21


External Ids:

OMIM46 266100
MESH via Orphanet35 C536254
ICD10 via Orphanet26 G40.8
SNOMED-CT via Orphanet57 124596009
UMLS via Orphanet61 C1291560, C1849508

Related Diseases for Pyridoxine-Dependent Epilepsy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Pyridoxine-Dependent Epilepsy:



Diseases related to pyridoxine-dependent epilepsy

Clinical Features for Pyridoxine-Dependent Epilepsy

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46OMIM, 48Orphanet
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Clinical features from OMIM:

266100

Clinical synopsis from OMIM:

266100

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Pyridoxine-Dependent Epilepsy

Search CenterWatch for Pyridoxine-Dependent Epilepsy

Genetic Tests for Pyridoxine-Dependent Epilepsy

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20GeneTests, 22GTR
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Genetic tests related to Pyridoxine-Dependent Epilepsy:

id Genetic test Affiliating Genes
1 Pyridoxine-Dependent Epilepsy20 22 ALDH7A1

Anatomical Context for Pyridoxine-Dependent Epilepsy

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32MalaCards
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MalaCards organs/tissues related to Pyridoxine-Dependent Epilepsy:

32
Liver

Animal Models for Pyridoxine-Dependent Epilepsy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pyridoxine-Dependent Epilepsy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028739.1ALDH7A1, GAD1

Publications for Pyridoxine-Dependent Epilepsy

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50PubMed
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Articles related to Pyridoxine-Dependent Epilepsy:

(show top 50)    (show all 54)
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 due to antiquitin deficiency: achieving a favourable outcome. (24184718)
2013
13
Pyridoxine dependent epilepsy: enduring mystery and continuing challenges. (22728846)
2012
14
Variability of phenotype in two sisters with pyridoxine dependent epilepsy. (22728861)
2012
15
Long-term outcome in pyridoxine-dependent epilepsy. (22804844)
2012
16
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy. (23166088)
2012
17
Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1. (22305855)
2012
18
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. (22529283)
2012
19
Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. (22784480)
2012
20
Pyridoxine-dependent epilepsy with elevated urinary I+-amino adipic semialdehyde in molybdenum cofactor deficiency. (23147983)
2012
21
Natural history of pyridoxine-dependent epilepsy: tools for prognostication. (22803601)
2012
22
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. (23022070)
2012
23
Epilepsy as a pyridoxine-dependent condition: quantified urinary biomarkers for status evaluation and monitoring antiepileptic treatment. (22647618)
2012
24
Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures. (21496129)
2012
25
A case of extreme prematurity and delayed diagnosis of pyridoxine-dependent epilepsy. (23022904)
2012
26
Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy. (22371912)
2012
27
Roth spots in pyridoxine dependent epilepsy. (22688935)
2011
28
Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy. (21397171)
2011
29
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. (21704546)
2011
30
Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics. (20412262)
2010
31
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. (20814824)
2010
32
The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy. (20887371)
2010
33
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). (20554659)
2010
34
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. (19142996)
2009
35
Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. (19294602)
2008
36
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. (17068770)
2007
37
Pyridoxine-dependent epilepsy initially responsive to phenobarbital. (18094870)
2007
38
Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency. (17560822)
2007
39
Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy. (16178031)
2005
40
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. (15944906)
2005
41
A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. (10978228)
2000
42
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. (10894227)
2000
43
Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. (11012277)
2000
44
Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. (10448181)
1999
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

Genetic Variations for Pyridoxine-Dependent Epilepsy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Pyridoxine-Dependent Epilepsy:

62
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

Expression for genes affiliated with Pyridoxine-Dependent Epilepsy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pyridoxine-Dependent Epilepsy

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

Pathways for genes affiliated with Pyridoxine-Dependent Epilepsy

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29KEGG
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Pathways related to Pyridoxine-Dependent Epilepsy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ALDH7A1, GAD1

Compounds for genes affiliated with Pyridoxine-Dependent Epilepsy

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44Novoseek, 24HMDB, 59Tocris Bioscience, 11DrugBank
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Compounds related to Pyridoxine-Dependent Epilepsy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nadph44 2410.1ALDH7A1, GAD1
2beta-alanine44 59 11 2412.0ALDH7A1, GAD1
3vitamin b6448.8ALDH7A1, GAD1

GO Terms for genes affiliated with Pyridoxine-Dependent Epilepsy

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Products for genes affiliated with Pyridoxine-Dependent Epilepsy

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  • Antibodies
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  • Lysates
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Sources for Pyridoxine-Dependent Epilepsy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet