Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 24-08-2020

Symbol	EPM7
Location	11p15.1
Name	epilepsy, progressive myoclonic 7
Corresponding gene	KCNC1
Main clinical features	after normal development in early childhood, onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life patients may have cognitive decline, and most patients becoming wheelchair-bound also several form, among which the most recently described is MEAK - myoclonus epilepsy and ataxia due to potassium channel mutation (PMID: 27629860))
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)