Progressive Myoclonic Epilepsy Gene Panel

 
 
Disorder/Clinical Features Genes
Lafora Disease EPM2A, NHLRC1 (EPM2B)
Progressive Myoclonic Epilepsy CSTB, EPM2A, NHLRC1 (EPM2B), PRICKLE1
Juvenile and Adult Neuronal Ceroid Lipofuscinoses (NCL) CLN3, CLN5, CLN8, CTSD, PPT1,TPP1
Unverricht-Lundbord Disease (Baltic Myoclonus) CSTB