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generalized epilepsy-paroxysmal dyskinesia syndrome

MeSH: C563719ORPHA: 79137

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with generalized epilepsy-paroxysmal dyskinesia syndrome, sourced from HPO and Orphanet clinical annotations.

Generalized-onset seizureParoxysmal dyskinesiaEEG with spike-wave complexes (>3.5 Hz)EsotropiaNystagmusGlobal developmental delayGeneralized hypotoniaBilateral tonic-clonic seizureChoreaGeneralized non-motor (absence) seizureBorderline intellectual disability

Classification & Codes

MeSH Code

C563719

Orphanet Code

ORPHA:79137
generalized epilepsy-paroxysmal dyskinesia syndrome
MeSHC563719
OrphanetORPHA:79137
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO