pyridoxine-dependent epilepsy

Summary
Definition
An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine.
Super Class
autosomal recessive disease epilepsy
External Links
Disease Ontology
DOID:0080768
Mondo Disease Ontology
MeSH
UMLS
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 41 in total
HPO ID HPO Term
HP:0011199 EEG with generalized sharp slow waves
HP:0002119 Ventriculomegaly
HP:0012704 Widened subarachnoid space
HP:0002521 Hypsarrhythmia
HP:0001250 Seizure
HP:0011097 Epileptic spasm
HP:0000273 Facial grimacing
HP:0007359 Focal-onset seizure
HP:0011198 EEG with generalized epileptiform discharges
HP:0002079 Hypoplasia of the corpus callosum
Displaying 1 entry
Gene ID Gene Symbol Description
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024