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.

Also known as: GEPD, PNKD3, epilepsy, generalized, with paroxysmal dyskinesia, generalised epilepsy and paroxysmal dyskinesia, generalized epilepsy and paroxysmal dyskinesia, paroxysmal nonkinesigenic dyskinesia, 3, with or without generalised epilepsy, paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy

10 clinical trials for this condition and its sub-types.