EPD
MCID: PYR014
MIFTS: 50

Pyridoxine-Dependent Epilepsy (EPD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories
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Summaries for Pyridoxine-Dependent Epilepsy

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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 based summary: Pyridoxine-Dependent Epilepsy, also known as vitamin b6-dependent seizures, is related to glutamate decarboxylase deficiency and status epilepticus, and has symptoms including eeg anomalies, movement disorder and seizures/epilepsy/absences/spasms/status epilepticus. 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: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:65 Pyridoxine-dependent epilepsy (PDE), also referred to as pyridoxine-dependent seizure (PDS) or vitamin... more...

Description from OMIM:46 266100

GeneReviews summary for pds

Aliases & Classifications for Pyridoxine-Dependent Epilepsy

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 48Orphanet, 62UMLS, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Pyridoxine-Dependent Epilepsy, Aliases & Descriptions:

Name: Pyridoxine-Dependent Epilepsy 19 42 20 22 21 48
Vitamin B6-Dependent Seizures 19 42 21 62
Pyridoxine Dependency with Seizures 42 21 62
Epilepsy, Pyridoxine-Dependent 21 46 62
Pyridoxine Dependency 19 42 21
Pyridoxine-Dependent Seizures 19 21
 
Glutamate Decarboxylase Deficiency 48
Vitamin B6-Responsive Seizures 48
Pyridoxine-Responsive Seizures 48
Aasa Dehydrogenase Deficiency 21
Pde 21
Epd 21


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 266100
MESH via Orphanet35 C536254
ICD10 via Orphanet26 G40.8
UMLS via Orphanet63 C1291560, C1849508

Related Diseases for Pyridoxine-Dependent Epilepsy

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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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Symptoms by clinical synopsis from OMIM:

266100

Clinical features from OMIM:

266100

Symptoms:

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

HPO human phenotypes related to Pyridoxine-Dependent Epilepsy:

(show all 22)
id Description Frequency HPO Source Accession
1 seizures hallmark (90%) HP:0001250
2 abnormality of metabolism/homeostasis hallmark (90%) HP:0001939
3 neurological speech impairment hallmark (90%) HP:0002167
4 eeg abnormality hallmark (90%) HP:0002353
5 abnormality of movement hallmark (90%) HP:0100022
6 cognitive impairment hallmark (90%) HP:0100543
7 muscular hypotonia typical (50%) HP:0001252
8 strabismus occasional (7.5%) HP:0000486
9 ventriculomegaly occasional (7.5%) HP:0002119
10 cerebral cortical atrophy occasional (7.5%) HP:0002120
11 hepatomegaly occasional (7.5%) HP:0002240
12 autosomal recessive inheritance HP:0000007
13 delayed speech and language development HP:0000750
14 intellectual disability HP:0001249
15 muscular hypotonia HP:0001252
16 prenatal movement abnormality HP:0001557
17 abnormality of metabolism/homeostasis HP:0001939
18 generalized tonic-clonic seizures HP:0002069
19 respiratory distress HP:0002098
20 generalized myoclonic seizures HP:0002123
21 status epilepticus HP:0002133
22 neonatal respiratory distress HP:0002643

Drugs & Therapeutics for Pyridoxine-Dependent Epilepsy

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Drug clinical trials:

Search ClinicalTrials for Pyridoxine-Dependent Epilepsy

Search NIH Clinical Center for Pyridoxine-Dependent Epilepsy

Genetic Tests for Pyridoxine-Dependent Epilepsy

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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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MalaCards organs/tissues related to Pyridoxine-Dependent Epilepsy:

32
Liver

Animal Models for Pyridoxine-Dependent Epilepsy or affiliated genes

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MGI Mouse Phenotypes related to Pyridoxine-Dependent Epilepsy:

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

Publications for Pyridoxine-Dependent Epilepsy

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Articles related to Pyridoxine-Dependent Epilepsy:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient. (24664088)
2014
2
Callosal alterations in pyridoxine-dependent epilepsy. (24942048)
2014
3
Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy. (25123644)
2014
4
Corpus callosum alterations in pyridoxine-dependent epilepsy: a mirror image of an ongoing disease? (24948334)
2014
5
Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. (24664145)
2014
6
Long-Term Treatment Outcome of two Patients With Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Mutations: Normal Neurocognitive Outcome. (24789515)
2014
7
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. (24748525)
2014
8
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. (23350806)
2013
9
Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy. (23054014)
2013
10
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy. (23430810)
2013
11
Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. (23953072)
2013
12
Congenital cataract in a child with pyridoxine-dependent epilepsy. (23602455)
2013
13
Pyridoxine-dependent Epilepsy: An Often Unrecognized but Treatable cause of Intractable Seizures:Case report from Korle Bu Teaching Hospital, Accra, Ghana. (24122693)
2013
14
Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene. (23925287)
2013
15
Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation. (23916709)
2013
16
Pyridoxine dependent epilepsy: enduring mystery and continuing challenges. (22728846)
2012
17
Variability of phenotype in two sisters with pyridoxine dependent epilepsy. (22728861)
2012
18
Long-term outcome in pyridoxine-dependent epilepsy. (22804844)
2012
19
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy. (23166088)
2012
20
Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1. (22305855)
2012
21
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. (22529283)
2012
22
Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. (22784480)
2012
23
Pyridoxine-dependent epilepsy with elevated urinary I+-amino adipic semialdehyde in molybdenum cofactor deficiency. (23147983)
2012
24
Natural history of pyridoxine-dependent epilepsy: tools for prognostication. (22803601)
2012
25
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. (23022070)
2012
26
Roth spots in pyridoxine dependent epilepsy. (22688935)
2011
27
Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy. (21397171)
2011
28
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. (21704546)
2011
29
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. (20370816)
2010
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
Focal status epilepticus as atypical presentation of pyridoxine-dependent epilepsy. (16225819)
2005
39
Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy. (16178031)
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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UniProtKB/Swiss-Prot genetic disease variations for Pyridoxine-Dependent Epilepsy:

64
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:

6
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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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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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 I37
9.1GAD1, ALDH7A1

Compounds for genes affiliated with Pyridoxine-Dependent Epilepsy

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Sources:
44Novoseek, 61Tocris Bioscience, 28IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Pyridoxine-Dependent Epilepsy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1beta-alanine44 61 28 24 1113.1GAD1, ALDH7A1
2nadph44 2410.1GAD1, ALDH7A1
3Gamma-Aminobutyric acid249.0GAD1, ALDH7A1
4vitamin b6448.8GAD1, ALDH7A1

GO Terms for genes affiliated with Pyridoxine-Dependent Epilepsy

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet