Article
CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.
Human mutation - 1 Aug 2017
Poirier Karine, Hubert Laurence, Viot Géraldine, Rio Marlène, Billuart Pierre, Besmond Claude, Bienvenu Thierry
Abstract excerpt
De novo mutations are a frequent cause of disorders related to brain development. We report the results from the screening of two patients diagnosed with intellectual disability (ID) using exome sequencing to identify new causative de novo mutations. Exome sequencing was conducted in two patient-parent trios to identify de novo variants. In silico and expression studies were also performed to evaluate the...
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