juvenile absence epilepsy type 1

juvenile absence epilepsy type 1

A subtype of idiopathic generalised epilepsy (OMIM:607631) which is characterised by onset near puberty, absence seizures, generalised tonic-clonic seizures on awakening, and myoclonic seizures.
 
Molecular pathology
Defects in EFHC1, which encodes an EF-hand-domain protein thought to enhance calcium influx through CACNA1E, increase the susceptibility to juvenile absence epilepsy type 1.