juvenile myoclonic epilepsy Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. (Human Disease Ontology, DOID_4890)
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Genes

5 genes involed in the disease juvenile myoclonic epilepsy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CLCN2 chloride channel, voltage-sensitive 2
EFHC1 EF-hand domain (C-terminal) containing 1
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta