Ontology highlight
ABSTRACT:
SUBMITTER: Muona M
PROVIDER: S-EPMC4281260 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
Nature genetics 20141117 1
Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 unrelated individuals with PME of unknown cause and molecularly solved 26 cases (31%). Remarkably, a recurrent de novo mutation, c.959G>A (p.Arg320His), in KCNC1 was identified as a new major cause for PME. Eleven unrelated exome-sequenced (13%) and two affected individuals in a secondary cohort (7%) had this mutation. ...[more]