PDE
MCID: EPL131
MIFTS: 38

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 58 26 13 41 74
Pyridoxine-Dependent Epilepsy 58 25 54 26 60 76 38 30 6
Vitamin B6-Dependent Seizures 25 54 26 60
Pyridoxine Dependency with Seizures 58 54 26
Pyridoxine Dependency 25 54 26
Pde 58 26 76
Aasa Dehydrogenase Deficiency 58 26
Pyridoxine-Dependent Seizures 25 26
Antiquitin Deficiency 54 60
Epd 58 26
Pyridoxine-Dependent Epilepsy; Pde 58

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

Miscellaneous:
prenatal or neonatal onset
seizures are responsive to pyridoxine treatment
incidence of 1 in 276,000 in the netherlands


HPO:

33
epilepsy, pyridoxine-dependent:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 266100
KEGG 38 H01247
MESH via Orphanet 46 C536254
ICD10 via Orphanet 35 G40.8
UMLS via Orphanet 75 C1291560 C1849508
Orphanet 60 ORPHA3006
MedGen 43 C1849508
UMLS 74 C1849508

Summaries for Epilepsy, Pyridoxine-Dependent

NIH Rare Diseases : 54 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 neurological speech impairment

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 Pyridoxine-dependent epilepsy (PDE) is a rare genetic disorder characterized by intractable seizures in... 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 67)
# Related Disease Score Top Affiliating Genes
1 epilepsy 30.1 ALDH7A1 PLPBP
2 cystathioninuria 11.1
3 depression 10.5
4 postpartum depression 10.4
5 hydrocephalus 10.2
6 status epilepticus 10.2
7 anxiety 10.2
8 hepatitis c virus 10.1
9 hepatitis 10.1
10 leukemia 10.1
11 hepatitis c 10.1
12 multiple sclerosis 10.1
13 cataract 10.1
14 molybdenum cofactor deficiency 10.1
15 cortical blindness 10.1
16 obstructive hydrocephalus 10.1
17 lactic acidosis 10.1
18 hypoglycemia 10.1
19 congenital hydrocephalus 10.1
20 seizure disorder 10.1
21 encephalopathy 10.1
22 folinic acid-responsive seizures 10.1
23 ovarian cancer 10.0
24 autism spectrum disorder 10.0
25 disease of mental health 10.0
26 personality disorder 10.0
27 leukemia, chronic lymphocytic 2 10.0
28 leukemia, chronic lymphocytic 10.0
29 lymphocytic leukemia 10.0
30 impotence 10.0
31 leukemia, b-cell, chronic 10.0
32 microcephaly 10.0
33 homocystinuria 10.0
34 breast cancer 9.8
35 schizophrenia 9.8
36 lung cancer 9.8
37 neuroblastoma 9.8
38 squamous cell carcinoma, head and neck 9.8
39 muscular dystrophy, becker type 9.8
40 asthma 9.8
41 stroke, ischemic 9.8
42 psoriasis 2 9.8
43 psoriasis 7 9.8
44 psoriatic arthritis 9.8
45 leukemia, chronic myeloid 9.8
46 psoriasis 11 9.8
47 psoriasis 13 9.8
48 arthritis 9.8
49 bipolar disorder 9.8
50 spinal cord injury 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

Human phenotypes related to Epilepsy, Pyridoxine-Dependent:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 neurological speech impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002167
3 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 abnormality of metabolism/homeostasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001939
6 abnormality of movement 60 33 hallmark (90%) Very frequent (99-80%) HP:0100022
7 status epilepticus 60 33 hallmark (90%) Very frequent (99-80%) HP:0002133
8 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
9 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
10 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
11 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
12 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
13 seizures 60 Very frequent (99-80%)
14 delayed speech and language development 33 HP:0000750
15 generalized myoclonic seizures 33 HP:0002123
16 respiratory distress 33 HP:0002098
17 generalized tonic-clonic seizures 33 HP:0002069
18 neonatal respiratory distress 33 HP:0002643
19 prenatal movement abnormality 33 HP:0001557
20 generalized hypotonia 33 HP:0001290
21 fetal distress 33 HP:0025116

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
status epilepticus
hypotonia
mental retardation
myoclonic seizures
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

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 30 ALDH7A1

Anatomical Context for Epilepsy, Pyridoxine-Dependent

Publications for Epilepsy, Pyridoxine-Dependent

Articles related to Epilepsy, Pyridoxine-Dependent:

(show top 50) (show all 98)
# Title Authors Year
1
New insights into human lysine degradation pathways with relevance to pyridoxine dependent epilepsy due to antiquitin deficiency. ( 30767241 )
2019
2
Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening. ( 30663059 )
2019
3
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy. ( 30043187 )
2018
4
High-Fidelity Simulation Scenario: Pyridoxine-Dependent Epilepsy and Treatment. ( 30800953 )
2018
5
Biomarker Profiling for Pyridoxine Dependent Epilepsy in Dried Blood Spots by HILIC-ESI-MS. ( 30154848 )
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
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome? ( 29661537 )
2018
9
Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1. ( 29547829 )
2018
10
Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review. ( 29295802 )
2018
11
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy. ( 27856333 )
2017
12
Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child. ( 28131559 )
2017
13
Obstructive Hydrocephalus in Pyridoxine-Dependent Epilepsy: An Uncommon Complication. ( 28216032 )
2017
14
Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE). ( 27615426 )
2017
15
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy. ( 27882480 )
2017
16
Clinical and genetic characteristics of pyridoxine-dependent epilepsy: Case series report of three Chinese patients with phenotypic variability. ( 28962114 )
2017
17
Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. ( 29053735 )
2017
18
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency. ( 29061647 )
2017
19
Current knowledge for pyridoxine-dependent epilepsy: a 2016 update. ( 30058881 )
2017
20
Pyridoxine-dependent epilepsy: report on three families with neuropathology. ( 27438048 )
2016
21
Corpus Callosum Diffusion and Connectivity Features in High Functioning Subjects With Pyridoxine-Dependent Epilepsy. ( 26547255 )
2016
22
A 15-year-old with seizures: late diagnosis of pyridoxine-dependent epilepsy. ( 26943461 )
2016
23
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum. ( 26995068 )
2016
24
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
25
Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy. ( 27324284 )
2016
26
Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy. ( 27522229 )
2016
27
Current treatment and management of pyridoxine-dependent epilepsy. ( 25639976 )
2015
28
First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene. ( 26232297 )
2015
29
A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients. ( 26555630 )
2015
30
Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature. ( 27186704 )
2015
31
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. ( 26224730 )
2015
32
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome. ( 26026794 )
2015
33
Case Report: Intravenous and Oral Pyridoxine Trial for Diagnosis of Pyridoxine-Dependent Epilepsy. ( 26101365 )
2015
34
Gene sleuthing in pyridoxine-dependent epilepsy. ( 26224728 )
2015
35
Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy. ( 25123644 )
2014
36
Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. ( 24613284 )
2014
37
Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. ( 24664145 )
2014
38
Long-Term Treatment Outcome of two Patients With Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Mutations: Normal Neurocognitive Outcome. ( 24789515 )
2014
39
Callosal alterations in pyridoxine-dependent epilepsy. ( 24942048 )
2014
40
Corpus callosum alterations in pyridoxine-dependent epilepsy: a mirror image of an ongoing disease? ( 24948334 )
2014
41
Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient. ( 24664088 )
2014
42
Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: l-arginine supplementation alternative to lysine-restricted diet. ( 25127453 )
2014
43
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. ( 24748525 )
2014
44
Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect. ( 27896080 )
2014
45
Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation. ( 23916709 )
2013
46
Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. ( 23953072 )
2013
47
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy. ( 23430810 )
2013
48
Congenital cataract in a child with pyridoxine-dependent epilepsy. ( 23602455 )
2013
49
Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene. ( 23376216 )
2013
50
Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations. ( 23683770 )
2013

Variations for Epilepsy, Pyridoxine-Dependent

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

76
# 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 346)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH7A1 NM_001182.4(ALDH7A1): c.1567A> G (p.Thr523Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61757684 GRCh37 Chromosome 5, 125880710: 125880710
2 ALDH7A1 NM_001182.4(ALDH7A1): c.1567A> G (p.Thr523Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61757684 GRCh38 Chromosome 5, 126545018: 126545018
3 ALDH7A1 NM_001182.4(ALDH7A1): c.577G> A (p.Ala193Thr) single nucleotide variant Uncertain significance rs773503933 GRCh37 Chromosome 5, 125912844: 125912844
4 ALDH7A1 NM_001182.4(ALDH7A1): c.577G> A (p.Ala193Thr) single nucleotide variant Uncertain significance rs773503933 GRCh38 Chromosome 5, 126577152: 126577152
5 ALDH7A1 NM_001182.4(ALDH7A1): c.1513G> C (p.Gly505Arg) single nucleotide variant Pathogenic rs556400964 GRCh38 Chromosome 5, 126546376: 126546376
6 ALDH7A1 NM_001182.4(ALDH7A1): c.1513G> C (p.Gly505Arg) single nucleotide variant Pathogenic rs556400964 GRCh37 Chromosome 5, 125882068: 125882068
7 ALDH7A1 NM_001182.4(ALDH7A1): c.1301A> G (p.Tyr434Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs747597620 GRCh38 Chromosome 5, 126552037: 126552037
8 ALDH7A1 NM_001182.4(ALDH7A1): c.1301A> G (p.Tyr434Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs747597620 GRCh37 Chromosome 5, 125887729: 125887729
9 ALDH7A1 NM_001182.4(ALDH7A1): c.1084C> T (p.Pro362Ser) single nucleotide variant Uncertain significance rs532800318 GRCh38 Chromosome 5, 126555940: 126555940
10 ALDH7A1 NM_001182.4(ALDH7A1): c.1084C> T (p.Pro362Ser) single nucleotide variant Uncertain significance rs532800318 GRCh37 Chromosome 5, 125891632: 125891632
11 ALDH7A1 NM_001182.4(ALDH7A1): c.1046G> C (p.Arg349Thr) single nucleotide variant Uncertain significance rs553114356 GRCh38 Chromosome 5, 126555978: 126555978
12 ALDH7A1 NM_001182.4(ALDH7A1): c.1046G> C (p.Arg349Thr) single nucleotide variant Uncertain significance rs553114356 GRCh37 Chromosome 5, 125891670: 125891670
13 ALDH7A1 NM_001182.4(ALDH7A1): c.1016A> G (p.His339Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199767457 GRCh38 Chromosome 5, 126556008: 126556008
14 ALDH7A1 NM_001182.4(ALDH7A1): c.1016A> G (p.His339Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199767457 GRCh37 Chromosome 5, 125891700: 125891700
15 ALDH7A1 NM_001182.4(ALDH7A1): c.1010T> G (p.Phe337Cys) single nucleotide variant Uncertain significance rs747834606 GRCh38 Chromosome 5, 126556014: 126556014
16 ALDH7A1 NM_001182.4(ALDH7A1): c.1010T> G (p.Phe337Cys) single nucleotide variant Uncertain significance rs747834606 GRCh37 Chromosome 5, 125891706: 125891706
17 ALDH7A1 NM_001182.4(ALDH7A1): c.858G> A (p.Val286=) single nucleotide variant Benign/Likely benign rs150623275 GRCh37 Chromosome 5, 125903964: 125903964
18 ALDH7A1 NM_001182.4(ALDH7A1): c.858G> A (p.Val286=) single nucleotide variant Benign/Likely benign rs150623275 GRCh38 Chromosome 5, 126568272: 126568272
19 ALDH7A1 NM_001182.4(ALDH7A1): c.664A> G (p.Thr222Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs777829351 GRCh38 Chromosome 5, 126575451: 126575451
20 ALDH7A1 NM_001182.4(ALDH7A1): c.664A> G (p.Thr222Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs777829351 GRCh37 Chromosome 5, 125911143: 125911143
21 ALDH7A1 NM_001182.4(ALDH7A1): c.553G> A (p.Val185Ile) single nucleotide variant Uncertain significance rs61757685 GRCh38 Chromosome 5, 126577176: 126577176
22 ALDH7A1 NM_001182.4(ALDH7A1): c.553G> A (p.Val185Ile) single nucleotide variant Uncertain significance rs61757685 GRCh37 Chromosome 5, 125912868: 125912868
23 ALDH7A1 NM_001182.4(ALDH7A1): c.542A> G (p.Gln181Arg) single nucleotide variant Uncertain significance rs796052257 GRCh38 Chromosome 5, 126577187: 126577187
24 ALDH7A1 NM_001182.4(ALDH7A1): c.542A> G (p.Gln181Arg) single nucleotide variant Uncertain significance rs796052257 GRCh37 Chromosome 5, 125912879: 125912879
25 ALDH7A1 NM_001182.4(ALDH7A1): c.364C> T (p.Arg122Trp) single nucleotide variant Uncertain significance rs370624118 GRCh38 Chromosome 5, 126583961: 126583961
26 ALDH7A1 NM_001182.4(ALDH7A1): c.364C> T (p.Arg122Trp) single nucleotide variant Uncertain significance rs370624118 GRCh37 Chromosome 5, 125919653: 125919653
27 ALDH7A1 NM_001182.4(ALDH7A1): c.203C> A (p.Thr68Asn) single nucleotide variant Uncertain significance rs58528748 GRCh38 Chromosome 5, 126593394: 126593394
28 ALDH7A1 NM_001182.4(ALDH7A1): c.203C> A (p.Thr68Asn) single nucleotide variant Uncertain significance rs58528748 GRCh37 Chromosome 5, 125929086: 125929086
29 ALDH7A1 NM_001182.4(ALDH7A1): c.200C> T (p.Thr67Met) single nucleotide variant Conflicting interpretations of pathogenicity rs543181020 GRCh38 Chromosome 5, 126593397: 126593397
30 ALDH7A1 NM_001182.4(ALDH7A1): c.200C> T (p.Thr67Met) single nucleotide variant Conflicting interpretations of pathogenicity rs543181020 GRCh37 Chromosome 5, 125929089: 125929089
31 ALDH7A1 NM_001182.4(ALDH7A1): c.56C> T (p.Ser19Phe) single nucleotide variant Uncertain significance rs566243475 GRCh38 Chromosome 5, 126595143: 126595143
32 ALDH7A1 NM_001182.4(ALDH7A1): c.56C> T (p.Ser19Phe) single nucleotide variant Uncertain significance rs566243475 GRCh37 Chromosome 5, 125930835: 125930835
33 ALDH7A1 NM_001182.4(ALDH7A1): c.31_33delCACinsGAG (p.His11Glu) indel Uncertain significance rs796052269 GRCh38 Chromosome 5, 126595166: 126595168
34 ALDH7A1 NM_001182.4(ALDH7A1): c.31_33delCACinsGAG (p.His11Glu) indel Uncertain significance rs796052269 GRCh37 Chromosome 5, 125930858: 125930860
35 ALDH7A1 NM_001182.4(ALDH7A1): c.8G> T (p.Arg3Leu) single nucleotide variant Uncertain significance rs759866910 GRCh38 Chromosome 5, 126595191: 126595191
36 ALDH7A1 NM_001182.4(ALDH7A1): c.8G> T (p.Arg3Leu) single nucleotide variant Uncertain significance rs759866910 GRCh37 Chromosome 5, 125930883: 125930883
37 ALDH7A1 NM_001182.4(ALDH7A1): c.8G> A (p.Arg3His) single nucleotide variant Uncertain significance rs759866910 GRCh38 Chromosome 5, 126595191: 126595191
38 ALDH7A1 NM_001182.4(ALDH7A1): c.8G> A (p.Arg3His) single nucleotide variant Uncertain significance rs759866910 GRCh37 Chromosome 5, 125930883: 125930883
39 ALDH7A1 NM_001182.4(ALDH7A1): c.1193G> T (p.Gly398Val) single nucleotide variant Pathogenic rs864622557 GRCh38 Chromosome 5, 126554294: 126554294
40 ALDH7A1 NM_001182.4(ALDH7A1): c.1193G> T (p.Gly398Val) single nucleotide variant Pathogenic rs864622557 GRCh37 Chromosome 5, 125889986: 125889986
41 ALDH7A1 NM_001182.4(ALDH7A1): c.986G> A (p.Arg329Lys) single nucleotide variant Pathogenic rs864622558 GRCh37 Chromosome 5, 125894954: 125894954
42 ALDH7A1 NM_001182.4(ALDH7A1): c.986G> A (p.Arg329Lys) single nucleotide variant Pathogenic rs864622558 GRCh38 Chromosome 5, 126559262: 126559262
43 ALDH7A1 NM_001182.4(ALDH7A1): c.584A> G (p.Asn195Ser) single nucleotide variant Pathogenic rs372660425 GRCh38 Chromosome 5, 126577145: 126577145
44 ALDH7A1 NM_001182.4(ALDH7A1): c.584A> G (p.Asn195Ser) single nucleotide variant Pathogenic rs372660425 GRCh37 Chromosome 5, 125912837: 125912837
45 ALDH7A1 NM_001182.4(ALDH7A1): c.1279G> C (p.Glu427Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121912707 GRCh37 Chromosome 5, 125887751: 125887751
46 ALDH7A1 NM_001182.4(ALDH7A1): c.1279G> C (p.Glu427Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121912707 GRCh38 Chromosome 5, 126552059: 126552059
47 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh37 Chromosome 5, 125919689: 125919689
48 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh38 Chromosome 5, 126583997: 126583997
49 ALDH7A1 NM_001182.4(ALDH7A1): c.518-1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 5, 126577212: 126577212
50 ALDH7A1 NM_001182.4(ALDH7A1): c.518-1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 5, 125912904: 125912904

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:

38
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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