Article
Electrophysiological Alterations of Pyramidal Cells and Interneurons of the CA1 Region of the Hippocampus in a Novel Mouse Model of Dravet Syndrome.
Genetics - 1 Aug 2020
Dyment David A, Schock Sarah C, Deloughery Kristen, Tran Minh Hieu, Ure Kerstin, Nutter Lauryl M J, Creighton Amie, Yuan Julie, Banderali Umberto, Comas Tanya, Baumann Ewa, Jezierski Anna, Boycott Kym M, Mackenzie Alex E, Martina Marzia
Abstract excerpt
Dravet syndrome is a developmental epileptic encephalopathy caused by pathogenic variation in SCN1A To characterize the pathogenic substitution (p.H939R) of a local individual with Dravet syndrome, fibroblast cells from the individual were reprogrammed to pluripotent stem cells and differentiated into neurons. Sodium currents of these neurons were compared with healthy control induced neurons. A novel...
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