Details of Disease

General Information of Disease (ID: DIS5Z2SW)

• Disease Name: Generalized epilepsy-paroxysmal dyskinesia syndrome
• Synonyms: PNKD3; epilepsy, generalized, with paroxysmal dyskinesia; generalized epilepsy and paroxysmal dyskinesia; paroxysmal nonkinesigenic dyskinesia, 3, with or without generalised epilepsy; generalised epilepsy and paroxysmal dyskinesia; paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy; GEPD
• 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.
• Disease Hierarchy:
  DISHLPYW: Familial partial epilepsy
  DIS5Z2SW: Generalized epilepsy-paroxysmal dyskinesia syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0012276
  UMLS CUI: C5574945
  OMIM ID: 609446
  MedGen ID: 1801137
  Orphanet ID: 79137

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNMA1	DTVRZ0E	Definitive	Autosomal dominant	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNMA1	OTNYXOZO	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.