electroclinical syndrome Gene Set

Dataset	DISEASES Curated Gene-Disease Association Evidence Scores
Category	disease or phenotype associations
Type	disease
Description	An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. (Human Disease Ontology, DOID_0050701)
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Genes

10 genes involed in the disease electroclinical syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol	Name
ARX	aristaless related homeobox
CACNB4	calcium channel, voltage-dependent, beta 4 subunit
CDKL5	cyclin-dependent kinase-like 5
CLCN2	chloride channel, voltage-sensitive 2
CSTB	cystatin B (stefin B)
EFHC1	EF-hand domain (C-terminal) containing 1
EPM2A	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
GABRA1	gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRD	gamma-aminobutyric acid (GABA) A receptor, delta
NHLRC1	NHL repeat containing E3 ubiquitin protein ligase 1