generalized epilepsy-paroxysmal dyskinesia syndrome
Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.
MONDO:0017704
familial partial epilepsy
is_a
GEPD
exact
PNKD3
related
generalised epilepsy and paroxysmal dyskinesia
related
generalized epilepsy and paroxysmal dyskinesia
related
paroxysmal nonkinesigenic dyskinesia, 3, with or without generalised epilepsy
related