Ontology highlight
ABSTRACT:
SUBMITTER: Poirier K
PROVIDER: S-EPMC5437909 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Poirier Karine K Viot Géraldine G Lombardi Laura L Jauny Clémence C Billuart Pierre P Bienvenu Thierry T
European journal of human genetics : EJHG 20170201 5
p.(Arg320His) mutation in the KCNC1 gene in human 11p15.1 has recently been identified in patients with progressive myoclonus epilepsies, a group of rare inherited disorders manifesting with action myoclonus, myoclonic epilepsy, and ataxia. This KCNC1 variant causes a dominant-negative effect. Here we describe three patients from the same family with intellectual disability and dysmorphic features. The three affected individuals carry a c.1015C>T (p.(Arg339*)) nonsense variant in KCNC1 gene. As ...[more]