Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 3/07/2006

Symbol	GEPD
Location	10q22.3
Name	generalized epilepsy and paroxysmal dyskinesia
Other name(s)	epidermolysis bullosa junctionalis, progressive
Corresponding gene	KCNMA1
Main clinical features	the combination of generalized epilepsy and paroxysmal dyskinesia and Interictal electroencephalography (EEG) showing generalized spike-wave complexes
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Gene product

Name	potassium large conductance calcium-activated channel, subfamily M, alpha member 1

Remark(s)