Article
Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.
Annals of neurology - 1 Jul 2013
Liu Yu, Lopez-Santiago Luis F, Yuan Yukun, Jones Julie M, Zhang Helen, O'Malley Heather A, Patino Gustavo A, O'Brien Janelle E, Rusconi Raffaella, Gupta Ajay, Thompson Robert C, Natowicz Marvin R, Meisler Miriam H, Isom Lori L, Parent Jack M
Abstract excerpt
OBJECTIVE: Neuronal channelopathies cause brain disorders, including epilepsy, migraine, and ataxia. Despite the development of mouse models, pathophysiological mechanisms for these disorders remain uncertain. One particularly devastating channelopathy is Dravet syndrome (DS), a severe childhood epilepsy typically caused by de novo dominant mutations in the SCN1A gene encoding the voltage-gated sodium channel...
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