Article
Electrophysiological features of sleep in children with Kir4.1 channel mutations and Autism-Epilepsy phenotype: a preliminary study.
Sleep - 15 Apr 2020
Cucchiara Federico, Frumento Paolo, Banfi Tommaso, Sesso Gianluca, Di Galante Marco, D'Ascanio Paola, Valvo Giulia, Sicca Federico, Faraguna Ugo
Abstract excerpt
STUDY OBJECTIVES: Recently, a role for gain-of-function (GoF) mutations of the astrocytic potassium channel Kir4.1 (KCNJ10 gene) has been proposed in subjects with Autism-Epilepsy phenotype (AEP). Epilepsy and autism spectrum disorder (ASD) are common and complexly related to sleep disorders. We tested whether well characterized mutations in KCNJ10 could result in specific sleep electrophysiological features,...
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