Article
Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy.
PLoS genetics - 1 Jun 2015
Asinof Samuel K, Sukoff Rizzo Stacey J, Buckley Alexandra R, Beyer Barbara J, Letts Verity A, Frankel Wayne N, Boumil Rebecca M
Abstract excerpt
The childhood epileptic encephalopathies (EE's) are seizure disorders that broadly impact development including cognitive, sensory and motor progress with severe consequences and comorbidities. Recently, mutations in DNM1 (dynamin 1) have been implicated in two EE syndromes, Lennox-Gastaut Syndrome and Infantile Spasms. Dnm1 encodes dynamin 1, a large multimeric GTPase necessary for activity-dependent membrane...
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