Condition: EPILEPSY, PROGRESSIVE MYOCLONIC, 6


rs387906881 in GOSR2;LRRC37A2 gene and EPILEPSY, PROGRESSIVE MYOCLONIC, 6 PMID 21549339 2011 A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.