Ontology highlight
ABSTRACT:
SUBMITTER: Corbett MA
PROVIDER: S-EPMC3146720 | biostudies-literature | 2011 May
REPOSITORIES: biostudies-literature
American journal of human genetics 20110505 5
The progressive myoclonus epilepsies (PMEs) are a group of predominantly recessive disorders that present with action myoclonus, tonic-clonic seizures, and progressive neurological decline. Many PMEs have similar clinical presentations yet are genetically heterogeneous, making accurate diagnosis difficult. A locus for PME was mapped in a consanguineous family with a single affected individual to chromosome 17q21. An identical-by-descent, homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), a Go ...[more]