PDE
MCID: EPL131
MIFTS: 41

Epilepsy, Pyridoxine-Dependent (PDE)

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 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. Affiliated tissues include lung, breast and spinal cord, and 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 top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 epilepsy 30.3 ALDH7A1 PLPBP
2 cystathioninuria 11.1
3 depression 10.4
4 postpartum depression 10.2
5 hydrocephalus 10.2
6 status epilepticus 10.2
7 anxiety 10.2
8 leukemia 10.1
9 multiple sclerosis 10.1
10 cataract 10.1
11 molybdenum cofactor deficiency 10.1
12 cortical blindness 10.1
13 obstructive hydrocephalus 10.1
14 lactic acidosis 10.1
15 hypoglycemia 10.1
16 congenital hydrocephalus 10.1
17 encephalopathy 10.1
18 folinic acid-responsive seizures 10.1
19 ovarian cancer 10.0
20 autism spectrum disorder 10.0
21 disease of mental health 10.0
22 leukemia, chronic lymphocytic 2 10.0
23 leukemia, chronic lymphocytic 10.0
24 lymphocytic leukemia 10.0
25 leukemia, b-cell, chronic 10.0
26 microcephaly 10.0
27 homocystinuria 10.0
28 breast cancer 9.8
29 schizophrenia 9.8
30 lung cancer 9.8
31 neuroblastoma 9.8
32 muscular dystrophy, becker type 9.8
33 asthma 9.8
34 psoriasis 2 9.8
35 psoriasis 7 9.8
36 psoriatic arthritis 9.8
37 leukemia, chronic myeloid 9.8
38 hepatitis c virus 9.8
39 psoriasis 11 9.8
40 psoriasis 13 9.8
41 arthritis 9.8
42 hepatitis 9.8
43 spinal cord injury 9.8
44 renal fibrosis 9.8
45 withdrawal disorder 9.8
46 dementia 9.8
47 impotence 9.8
48 hepatitis c 9.8
49 ischemia 9.8
50 mast cell neoplasm 9.8

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 generalized hypotonia 32 HP:0001290
20 neonatal respiratory distress 32 HP:0002643
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

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

41
Lung, Breast, Spinal Cord, B Cells, Myeloid

Publications for Epilepsy, Pyridoxine-Dependent

Articles related to Epilepsy, Pyridoxine-Dependent:

(show top 50) (show all 95)
# Title Authors Year
1
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy. ( 30043187 )
2018
2
Biomarker Profiling for Pyridoxine Dependent Epilepsy in Dried Blood Spots by HILIC-ESI-MS. ( 30154848 )
2018
3
Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review. ( 29295802 )
2018
4
Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1. ( 29547829 )
2018
5
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome? ( 29661537 )
2018
6
Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy. ( 29875223 )
2018
7
Developmental outcome in pyridoxine-dependent epilepsy: Better late (onset) than early. ( 29887411 )
2018
8
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy. ( 27856333 )
2017
9
Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child. ( 28131559 )
2017
10
Obstructive Hydrocephalus in Pyridoxine-Dependent Epilepsy: An Uncommon Complication. ( 28216032 )
2017
11
Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE). ( 27615426 )
2017
12
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy. ( 27882480 )
2017
13
Clinical and genetic characteristics of pyridoxine-dependent epilepsy: Case series report of three Chinese patients with phenotypic variability. ( 28962114 )
2017
14
Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. ( 29053735 )
2017
15
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency. ( 29061647 )
2017
16
Current knowledge for pyridoxine-dependent epilepsy: a 2016 update. ( 30058881 )
2017
17
Pyridoxine-dependent epilepsy: report on three families with neuropathology. ( 27438048 )
2016
18
Corpus Callosum Diffusion and Connectivity Features in High Functioning Subjects With Pyridoxine-Dependent Epilepsy. ( 26547255 )
2016
19
A 15-year-old with seizures: late diagnosis of pyridoxine-dependent epilepsy. ( 26943461 )
2016
20
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum. ( 26995068 )
2016
21
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. ( 27212567 )
2016
22
Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy. ( 27324284 )
2016
23
Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy. ( 27522229 )
2016
24
Current treatment and management of pyridoxine-dependent epilepsy. ( 25639976 )
2015
25
First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene. ( 26232297 )
2015
26
A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients. ( 26555630 )
2015
27
Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature. ( 27186704 )
2015
28
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome. ( 26026794 )
2015
29
Case Report: Intravenous and Oral Pyridoxine Trial for Diagnosis of Pyridoxine-Dependent Epilepsy. ( 26101365 )
2015
30
Gene sleuthing in pyridoxine-dependent epilepsy. ( 26224728 )
2015
31
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. ( 26224730 )
2015
32
Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy. ( 25123644 )
2014
33
Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. ( 24613284 )
2014
34
Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. ( 24664145 )
2014
35
Long-Term Treatment Outcome of two Patients With Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Mutations: Normal Neurocognitive Outcome. ( 24789515 )
2014
36
Callosal alterations in pyridoxine-dependent epilepsy. ( 24942048 )
2014
37
Corpus callosum alterations in pyridoxine-dependent epilepsy: a mirror image of an ongoing disease? ( 24948334 )
2014
38
Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient. ( 24664088 )
2014
39
Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: l-arginine supplementation alternative to lysine-restricted diet. ( 25127453 )
2014
40
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. ( 24748525 )
2014
41
Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect. ( 27896080 )
2014
42
Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation. ( 23916709 )
2013
43
Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. ( 23953072 )
2013
44
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy. ( 23430810 )
2013
45
Congenital cataract in a child with pyridoxine-dependent epilepsy. ( 23602455 )
2013
46
Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene. ( 23376216 )
2013
47
Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations. ( 23683770 )
2013
48
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. ( 23350806 )
2013
49
Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene. ( 23925287 )
2013
50
Glial localization of antiquitin: Implications for pyridoxine-dependent epilepsy. ( 24122892 )
2013

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 348)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH7A1 NM_001182.4(ALDH7A1): c.1279G> C (p.Glu427Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121912707 GRCh37 Chromosome 5, 125887751: 125887751
2 ALDH7A1 NM_001182.4(ALDH7A1): c.1279G> C (p.Glu427Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121912707 GRCh38 Chromosome 5, 126552059: 126552059
3 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh37 Chromosome 5, 125919689: 125919689
4 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh38 Chromosome 5, 126583997: 126583997
5 ALDH7A1 NM_001182.4(ALDH7A1): c.518-1G> C single nucleotide variant Pathogenic rs779494572 GRCh38 Chromosome 5, 126577212: 126577212
6 ALDH7A1 NM_001182.4(ALDH7A1): c.518-1G> C single nucleotide variant Pathogenic rs779494572 GRCh37 Chromosome 5, 125912904: 125912904
7 ALDH7A1 NM_001182.4(ALDH7A1): c.312+2T> A single nucleotide variant Pathogenic GRCh38 Chromosome 5, 126592662: 126592662
8 ALDH7A1 NM_001182.4(ALDH7A1): c.312+2T> A single nucleotide variant Pathogenic GRCh37 Chromosome 5, 125928354: 125928354
9 ALDH7A1 NM_001182.4(ALDH7A1): c.596C> T (p.Ala199Val) single nucleotide variant Pathogenic rs121912709 GRCh37 Chromosome 5, 125912825: 125912825
10 ALDH7A1 NM_001182.4(ALDH7A1): c.596C> T (p.Ala199Val) single nucleotide variant Pathogenic rs121912709 GRCh38 Chromosome 5, 126577133: 126577133
11 ALDH7A1 NM_001182.4(ALDH7A1): c.1597delG (p.Ala533Profs) deletion Pathogenic rs387906574 GRCh37 Chromosome 5, 125880680: 125880680
12 ALDH7A1 NM_001182.4(ALDH7A1): c.1597delG (p.Ala533Profs) deletion Pathogenic rs387906574 GRCh38 Chromosome 5, 126544988: 126544988
13 ALDH7A1 NM_001182.4(ALDH7A1): c.1224T> G (p.Tyr408Ter) single nucleotide variant Pathogenic rs121912710 GRCh37 Chromosome 5, 125887806: 125887806
14 ALDH7A1 NM_001182.4(ALDH7A1): c.1224T> G (p.Tyr408Ter) single nucleotide variant Pathogenic rs121912710 GRCh38 Chromosome 5, 126552114: 126552114
15 ALDH7A1 NM_001182.4(ALDH7A1): c.902A> T (p.Asn301Ile) single nucleotide variant Pathogenic rs121912711 GRCh37 Chromosome 5, 125896786: 125896786
16 ALDH7A1 NM_001182.4(ALDH7A1): c.902A> T (p.Asn301Ile) single nucleotide variant Pathogenic rs121912711 GRCh38 Chromosome 5, 126561094: 126561094
17 ALDH7A1 NM_001182.4(ALDH7A1): c.834G> A (p.Val278=) single nucleotide variant Pathogenic rs201948406 GRCh38 Chromosome 5, 126568296: 126568296
18 ALDH7A1 NM_001182.4(ALDH7A1): c.834G> A (p.Val278=) single nucleotide variant Pathogenic rs201948406 GRCh37 Chromosome 5, 125903988: 125903988
19 ALDH7A1 NM_001182.4(ALDH7A1): c.1234A> G (p.Thr412Ala) single nucleotide variant Benign/Likely benign rs2306618 GRCh37 Chromosome 5, 125887796: 125887796
20 ALDH7A1 NM_001182.4(ALDH7A1): c.1234A> G (p.Thr412Ala) single nucleotide variant Benign/Likely benign rs2306618 GRCh38 Chromosome 5, 126552104: 126552104
21 ALDH7A1 NM_001182.4(ALDH7A1): c.1315A> C (p.Lys439Gln) single nucleotide variant Benign/Likely benign rs12514417 GRCh37 Chromosome 5, 125887715: 125887715
22 ALDH7A1 NM_001182.4(ALDH7A1): c.1315A> C (p.Lys439Gln) single nucleotide variant Benign/Likely benign rs12514417 GRCh38 Chromosome 5, 126552023: 126552023
23 ALDH7A1 NM_001182.4(ALDH7A1): c.273T> C (p.Thr91=) single nucleotide variant Benign/Likely benign rs60720055 GRCh37 Chromosome 5, 125928395: 125928395
24 ALDH7A1 NM_001182.4(ALDH7A1): c.273T> C (p.Thr91=) single nucleotide variant Benign/Likely benign rs60720055 GRCh38 Chromosome 5, 126592703: 126592703
25 ALDH7A1 NM_001182.4(ALDH7A1): c.373A> G (p.Ile125Val) single nucleotide variant Conflicting interpretations of pathogenicity rs117295656 GRCh37 Chromosome 5, 125919644: 125919644
26 ALDH7A1 NM_001182.4(ALDH7A1): c.373A> G (p.Ile125Val) single nucleotide variant Conflicting interpretations of pathogenicity rs117295656 GRCh38 Chromosome 5, 126583952: 126583952
27 ALDH7A1 NM_001182.4(ALDH7A1): c.675C> T (p.Leu225=) single nucleotide variant Benign/Likely benign rs57902950 GRCh37 Chromosome 5, 125911132: 125911132
28 ALDH7A1 NM_001182.4(ALDH7A1): c.675C> T (p.Leu225=) single nucleotide variant Benign/Likely benign rs57902950 GRCh38 Chromosome 5, 126575440: 126575440
29 SCN2A NM_021007.2(SCN2A): c.1376A> C (p.Glu459Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs184769423 GRCh37 Chromosome 2, 166170611: 166170611
30 SCN2A NM_021007.2(SCN2A): c.1376A> C (p.Glu459Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs184769423 GRCh38 Chromosome 2, 165314101: 165314101
31 ALDH7A1 NM_001182.4(ALDH7A1): c.615C> T (p.Asn205=) single nucleotide variant Conflicting interpretations of pathogenicity rs369380330 GRCh38 Chromosome 5, 126577114: 126577114
32 ALDH7A1 NM_001182.4(ALDH7A1): c.615C> T (p.Asn205=) single nucleotide variant Conflicting interpretations of pathogenicity rs369380330 GRCh37 Chromosome 5, 125912806: 125912806
33 ALDH7A1 NM_001182.4(ALDH7A1): c.243A> G (p.Arg81=) single nucleotide variant Benign rs146438406 GRCh38 Chromosome 5, 126593354: 126593354
34 ALDH7A1 NM_001182.4(ALDH7A1): c.243A> G (p.Arg81=) single nucleotide variant Benign rs146438406 GRCh37 Chromosome 5, 125929046: 125929046
35 ALDH7A1 NM_001182.4(ALDH7A1): c.1009-6G> A single nucleotide variant Benign rs138056453 GRCh38 Chromosome 5, 126556021: 126556021
36 ALDH7A1 NM_001182.4(ALDH7A1): c.1009-6G> A single nucleotide variant Benign rs138056453 GRCh37 Chromosome 5, 125891713: 125891713
37 ALDH7A1 NM_001182.4(ALDH7A1): c.1263G> A (p.Ala421=) single nucleotide variant Conflicting interpretations of pathogenicity rs587780850 GRCh37 Chromosome 5, 125887767: 125887767
38 ALDH7A1 NM_001182.4(ALDH7A1): c.1263G> A (p.Ala421=) single nucleotide variant Conflicting interpretations of pathogenicity rs587780850 GRCh38 Chromosome 5, 126552075: 126552075
39 ALDH7A1 NM_001182.4(ALDH7A1): c.-29T> C single nucleotide variant Conflicting interpretations of pathogenicity rs556650006 GRCh38 Chromosome 5, 126595227: 126595227
40 ALDH7A1 NM_001182.4(ALDH7A1): c.-29T> C single nucleotide variant Conflicting interpretations of pathogenicity rs556650006 GRCh37 Chromosome 5, 125930919: 125930919
41 ALDH7A1 NM_001182.4(ALDH7A1): c.39A> G (p.Ala13=) single nucleotide variant Benign/Likely benign rs201566142 GRCh38 Chromosome 5, 126595160: 126595160
42 ALDH7A1 NM_001182.4(ALDH7A1): c.39A> G (p.Ala13=) single nucleotide variant Benign/Likely benign rs201566142 GRCh37 Chromosome 5, 125930852: 125930852
43 ALDH7A1 NM_001182.4(ALDH7A1): c.1093+1G> A single nucleotide variant Pathogenic rs794727058 GRCh37 Chromosome 5, 125891622: 125891622
44 ALDH7A1 NM_001182.4(ALDH7A1): c.1093+1G> A single nucleotide variant Pathogenic rs794727058 GRCh38 Chromosome 5, 126555930: 126555930
45 ALDH7A1 NM_001182.4(ALDH7A1): c.1567A> G (p.Thr523Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61757684 GRCh37 Chromosome 5, 125880710: 125880710
46 ALDH7A1 NM_001182.4(ALDH7A1): c.1567A> G (p.Thr523Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61757684 GRCh38 Chromosome 5, 126545018: 126545018
47 ALDH7A1 NM_001182.4(ALDH7A1): c.577G> A (p.Ala193Thr) single nucleotide variant Uncertain significance rs773503933 GRCh37 Chromosome 5, 125912844: 125912844
48 ALDH7A1 NM_001182.4(ALDH7A1): c.577G> A (p.Ala193Thr) single nucleotide variant Uncertain significance rs773503933 GRCh38 Chromosome 5, 126577152: 126577152
49 ALDH7A1 NM_001182.4(ALDH7A1): c.1513G> C (p.Gly505Arg) single nucleotide variant Pathogenic rs556400964 GRCh38 Chromosome 5, 126546376: 126546376
50 ALDH7A1 NM_001182.4(ALDH7A1): c.1513G> C (p.Gly505Arg) single nucleotide variant Pathogenic rs556400964 GRCh37 Chromosome 5, 125882068: 125882068

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

Sources for Epilepsy, Pyridoxine-Dependent

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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