Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy

Simkin D, Marshall KA, Vanoye CG, Desai RR, Bustos BI, Piyevsky BN, Ortega JA, Forrest M, Robertson GL, Penzes P, Laux LC,  Lubbe SJ, Millichap JJ, George AL, Kiskinis E.

eLife, 2021



In this paper the authors used induced pluripotent stem cells (iPSCs) and gene editing in order develop a disease model of neonatal epileptic encephalopathy and measure the functional properties of the neurons.  The differentiated iPSC-derived neurons exhibited properties that facilitate the burst-suppression firing pattern.