Hereditary ataxiaGene: EPM2A
Lafora Epilepsy typically starts between ages 12-17, and is characterized by epilepsy (myoclonus or generalised) and progressive neurological deterioration (including dementia, ataxia), comments from Dr Arianna Tucci (Neurology, UCL).
Associated with phenotype in OMIM, not in G2P / DD. At least 7 variants reported
Created: 6 Feb 2017, 12:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Epilepsy, progressive myoclonic 2A (Lafora) 254780
EPM2A was created by sleigh
EPM2A was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert Review,UKGTN