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generalized epilepsy-paroxysmal dyskinesia syndrome (GEPD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

generalized epilepsy-paroxysmal dyskinesia syndrome

MONDO:0012276

Also known as:GEPDPNKD3epilepsy, generalized, with paroxysmal dyskinesia

Overview

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.

GeneticsAutosomal dominant · KCNMA1 (chr 10)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Global developmental delay and Brisk reflexes; and very common findings: Paroxysmal dyskinesia. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Seizure, Generalized non-motor (absence) seizure, Global developmental delay

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KCNMA1 encodes potassium calcium-activated channel subfamily M alpha 1 (1,236 aa). Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+). It is also activated by the concentration of cytosolic Mg(2+). Highest expression in Uterus (43.8 TPM) and Colon Sigmoid (36.4 TPM).

Generalized epilepsy-paroxysmal dyskinesia syndrome has been associated with mutations in the KCNMA1 gene on chromosome 10.

The KCNMA1 protein participates in KCNMA1:KCNMB1:LRRC52 transports K+ from the cytosol to the extracellular region, KCNMA1:KCNMB1 transports potassium ions from the cytosol to the extracellular region, and CHRNA9:CHRNA10:AcCho transports Ca2+ from the extracellular region to the cytosol pathways.

KCNMA1 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 5.8.

Diagnosis

Genetic testing for KCNMA1 is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 2 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for generalized epilepsy-paroxysmal dyskinesia syndrome.

2 publications have been identified in PubMed for generalized epilepsy-paroxysmal dyskinesia syndrome. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Roze E (2025). [PMID: 39620351](https://pubmed.ncbi.nlm.nih.gov/39620351/). *Mov Disord Clin Pract*. [Case Report / Case Series]
Garris J (2025). [PMID: 40534755](https://pubmed.ncbi.nlm.nih.gov/40534755/). *Epilepsy Curr*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 4:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609446

Orphanet

European rare disease database

Orphanet:79137

GARD

Genetic and Rare Diseases Info Center

GARD:16704

Questions for Your Care Team

→Should I pursue genetic testing for KCNMA1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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generalized epilepsy-paroxysmal dyskinesia syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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