A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy
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DOI: 10.1002/humu.23690
Abstract: Recent whole‐exome sequencing (WES) studies have demonstrated the contribution of de novo mutations (DNMs) to epileptic encephalopathies (EEs). Here, we performed WES on four trios with West syndrome and identified three loss‐of‐function DNMs in both… read more here.
Keywords: exome sequencing; novo pathogenic; pathogenic csnk1e; csnk1e ... See more keywords