. Author manuscript; available in PMC: 2016 Apr 18.

Published in final edited form as: Semin Neurol. 2014 Sep 5;34(3):266–279. doi: 10.1055/s-0034-1386765

Table 5.

Genes associated with Progressive myoclonus epilepsies.

GENE	FULL GENE NAME	Locus	Phenotype
CSTB	CYSTATIN B	21q22.3	Unverricht-Lundborg disease
PRICKLE1	REST-INTERACTING LIM DOMAIN PROTEIN	12q12	Unverricht-Lundborg-like PME
SCARB2	SCAVENGER RECEPTOR CLASS B, MEMBER 2	4q21.1	Unverricht-Lundborg-like PME
EPM2A	LAFORIN	6q24.3	Lafora disease
NHLRC1 (EPM2B)	MALIN	6p22.3	Lafora disease
PPT1/CLN1, TPP1/CLN2, CLN3, CLN5, CLN6, MFSD8/CLN7, CLN8, CLN10	PALMITOYL-PROTEIN THIOESTERASE 1, TRIPEPTIDYL PEPTIDASE, BATTENIN, CEROID LIPOFUSCINOISIS, NEURONAL, 5-8 AND 10	1p34.2 11p15.4 16p11.2 13q22.3 15q23 4q28.2 8p23.3 11p15.5	Neuronal ceroid lipofuscinosis, multiple subtypes.