Article
Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients.
Brain & development - 1 Apr 2018
Kim Hyun Woo, Quan Zhejiu, Kim Young-Beom, Cheong Eunji, Kim Heung Dong, Cho Minjung, Jang Jiho, Yoo Young Rang, Lee Joon Soo, Kim Ji Hun, Kim Yang In, Kim Dae-Sung, Kang Hoon-Chul
Abstract excerpt
BACKGROUND: We investigated how two distinct mutations in SCN1A differentially affect electrophysiological properties of the patient-derived GABAergic neurons and clinical severities in two Dravet syndrome (DS) patients. MATERIALS AND METHODS: We established induced pluripotent stem cells from two DS patients with different mutations in SCN1A and subsequently differentiated them into forebrain GABAergic neurons....
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