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Lori L. Isom, PhD

Lori L. Isom, PhD

[CANCELLED] Role of Sodium Channel SCN1A and SCN1B in Dravet Syndrome and SUDEP


February 19, 2016, 11:00 a.m. to 12:00 p.m.


Lori L. Isom, PhD

Interim Chair and Professor of Pharmacology; Professor of Molecular and Integrative Physiology; Professor of Neurology, University of Michigan Medical School


Fralin Biomedical Research Institute, R3012
2 Riverside Circle, Roanoke, VA 24016

Mutations in ion channels and their non-pore-forming subunits can lead to neurological or cardiovascular diseases called “channelopathies.” In recent years it has become apparent that ion channels are part of large, multiprotein complexes, comprising not only the channel pore and its auxiliary subunits, but also components of the cytoskeleton, regulatory kinases and phosphatases, trafficking proteins, extracellular matrix proteins, and possibly even other ion channels.

Disruption of any member of a sodium channel signaling complex in vivo has the potential to disrupt channel function, resulting in paroxysmal disease, such as epilepsy or cardiac arrhythmia. Mutations in beta subunit genes may result in defects in axon guidance or cell-cell communication. Consistent with this, Scn1b null mice have a hyperexcitable phenotype that includes epilepsy, ataxia, abnormal neuronal pathfinding, a prolonged QT interval, and early death.

Dr. Lori Isom’s laboratory reported the first SCN1B human mutation linked to Dravet Syndrome—a severe and sometimes fatal childhood epileptic encephalopathy that also leads to mental retardation—and showed that Scn1b null mice model this disease. Understanding the molecular composition of individual sodium channel signaling complexes in excitable cells, as well as the conducting and non-conducting functions of the beta subunits may yield important insights into the molecular basis of inherited disease.

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This is a free event. The host is Michael Friedlander, PhD. For more information, please send an e-mail.

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