Early onset dementia (encompassing fronto-temporal dementia and prion disease)Gene: NHLRC1
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, 12:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Epilepsy, progressive myoclonic 2B (Lafora) 254780
NHLRC1 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Emory Genetics Laboratory,Expert Review,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
NHLRC1 was created by sleigh