EP088: Diagnosing a patient with progressive myoclonic epilepsy-12 with variants of uncertain significance on exome sequencing

Abstract

Progressive myoclonic epilepsy-12 (EPM12) is a rare autosomal recessive neurologic condition characterized by tonic-clonic seizures, myoclonus, and cerebellar ataxia associated with progressive cerebral and cerebellar atrophy on brain imaging. EPM12 is associated with variants in the SLC7A6OS gene. It is a progressive condition in which most lost ambulation and become wheelchair bound as adults. We present a young adult identified with variants in the SLC7A6OS gene through exome sequencing (ES).