Article
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.
Cell reports - 24 Oct 2017
Gururaj Sushmitha, Palmer Elizabeth Emma, Sheehan Garrett D, Kandula Tejaswi, Macintosh Rebecca, Ying Kevin, Morris Paula, Tao Jiang, Dias Kerith-Rae, Zhu Ying, Dinger Marcel E, Cowley Mark J, Kirk Edwin P, Roscioli Tony, Sachdev Rani, Duffey Michael E, Bye Ann, Bhattacharjee Arin
Abstract excerpt
Early infantile epileptic encephalopathies (EOEE) are a debilitating spectrum of disorders associated with cognitive impairments. We present a clinical report of a KCNT2 mutation in an EOEE patient. The de novo heterozygous variant Phe240Leu SLICK was identified by exome sequencing and confirmed by Sanger sequencing. Phe240Leu rSlick and hSLICK channels were electrophysiologically, heterologously characterized to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.