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


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.

SUBMITTER: Poirier K 

PROVIDER: S-EPMC5437909 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature

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

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]

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