Electrophysiological features of sleep in children with Kir4.1channel mutations and Autism–Epilepsy phenotype: a preliminary study

Our study aimed at evaluating electrophysiological features of sleep in a cohort of ASD AEP children with GoF mutation of the astrocytic Kir4.1 channel, compared to age- and sex-matched children with similar phenotypes, but not carrying Kir4.1 mutations. Although the ASD/AEP children cohort was small, subjects were recruited over a long period of time (from 2009 to 2017) and are the only ones who are recognized—at least to date—to have an association between ASD/AEP and GoF mutation of the astrocytic Kir4.1 channels. This study, to the best of our knowledge the first investigating sleep EEG features in this cohort, reveals that the slow waves detected in sleep EEG recordings during daytime naps behave differently when associated with mutations in Kir4.1 channels and consequent dysfunction of astrocytic K+ buffering. Subjects with Kir4.1 mutations have indeed a significantly longer slow waves period than controls. This difference, which is particularly relevant for slow waves in the low-amplitude range, appears to be independent from the developmental stage since it remains stable from childhood to adolescence, thus providing a potential electrophysiologically grounded noninvasive biomarker for these mutations.

Electrophysiological features of sleep in children with Kir4.1channel mutations and autism

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