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Loss of Function of KCNC1 is associated with intellectual disability without seizures

Authors
Type
Published Article
Journal
European Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Publication Date
Jul 25, 2017
Volume
25
Issue
5
Pages
560–564
Identifiers
DOI: 10.1038/ejhg.2017.3
PMID: 28145425
PMCID: PMC5437909
Source
USPC - SET - SVS
License
Green

Abstract

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 previously observed in the mutant mouse carrying a disrupted KCNC1 gene, these findings reveal that individuals with a KCNC1 loss-of-function variant can present intellectual disability without seizure and epilepsy.

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