This Month in The Journal

In this issue, Helbig et  al. identify de novo CACNA1E missense mutations in 30 individuals with developmental and epileptic encephalopathy. This clinically and genetically heterogeneous disorder presents early in life and causes intractable seizures as well as developmental delay or regression. The individuals described i n this study also displayed hyperkinetic movement, joint contractures, and macrocephaly. CACNA1E is a voltage-gated calcium channel; its activity is required for appropriate synaptic transmission.

Source: The American Journal of Human Genetics - November 1, 2018 Category: Genetics & Stem Cells Authors: Sarah Ratzel, Sara Cullinan Tags: Editors' Corner Source Type: research