juvenile myoclonic epilepsy type 1

(redirected from epilepsy, myoclonic juvenile)

juvenile myoclonic epilepsy type 1

A subtype of idiopathic generalised epilepsy (OMIM:254770) characterised by afebrile seizures of adolescent onset and myoclonic jerks that occur while awake, which are triggered by sleep deprivation and fatigue.

Molecular pathology
Defects in EFHC1, which encodes an EF-hand-domain protein thought to enhance calcium influx through CACNA1E, cause juvenile myoclonic epilepsy type 1.
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