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Dr. Catterall is interested in electrical signaling in the brain and peripheral nervous system, its regulation in normal physiology, and its dysfunction in disease. His work focuses on the sodium channels that initiate action potentials and the calcium channels that initiate synaptic transmission in neurons and excitation-contraction coupling in muscle. Catterall and his group use a combination of molecular biology, mouse genetics, biochemistry, structural biology, electrophysiology, and confocal immunocytochemistry.
One current research project focuses on severe myoclonic epilepsy of infancy, an autosomal dominant genetic epileptic encephalopathy with devastating consequences for affected children, which is caused by heterozygous loss-of-function mutations in the gene encoding the brain sodium channel Nav1.1. He has developed a mouse genetic model that recapitulates all of the features of this disease, including the pattern and severity of seizures and the co-morbidities. With this mouse model, he has shown that the primary pathogenic event in this disease is failure of action potential generation in GABAergic inhibitory neurons. This impairment disinhibits the excitatory neurons and causes uncontrolled hyperexcitability and epilepsy, as well as ataxia, sleep disturbance and other co-morbidities. Catterall expects that findings from this investigation will provide crucial new information on the cell biology and regulation of sodium channels in this disease model, define the molecular and cellular mechanisms underlying severe myoclonic epilepsy in infancy, and yield insights into novel pharmacotherapies that may be effective in this intractable childhood disease.
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