/generalized epilepsy-paroxysmal dyskinesia syndrome

generalized epilepsy-paroxysmal dyskinesia syndrome

Rare Disease

MONDO:0012276

Also Known As

GEPDPNKD3epilepsy, generalized, with paroxysmal dyskinesiageneralised epilepsy and paroxysmal dyskinesiageneralized epilepsy and paroxysmal dyskinesiaparoxysmal nonkinesigenic dyskinesia, 3, with or without generalised epilepsyparoxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy

Definition

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.