generalized epilepsy-paroxysmal dyskinesia syndrome
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
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