Orphanet: Generalized epilepsy paroxysmal dyskinesia syndrome
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Generalized epilepsy-paroxysmal dyskinesia syndrome

Disease definition

Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised 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.

ORPHA:79137

Classification level: Disorder
  • Synonym(s):
    • GEPD
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: G40.3
  • OMIM: 609446
  • UMLS: C1836173
  • MeSH: -
  • GARD: -
  • MedDRA: -
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