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GTR Home > Conditions/Phenotypes > Generalized epilepsy-paroxysmal dyskinesia syndrome

Generalized epilepsy-paroxysmal dyskinesia syndrome

Synonyms
Generalized epilepsy and paroxysmal dyskinesia; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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 <i>KCNMA1</i> gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant. [from ORDO]

Available tests

25 tests are in the database for this condition.

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Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BKTM, CADEDS, IEG16, KCa1.1, LIWAS, MaxiK, PNKD3, SAKCA, SLO, SLO-ALPHA, SLO1, bA205K10.1, hSlo, mSLO1, KCNMA1
    Summary: potassium calcium-activated channel subfamily M alpha 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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