Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles.

ABSTRACT:

Background

Rett Syndrome (RTT) is a complex neurodevelopmental disorder, frequently associated with epilepsy. Despite increasing recognition of the clinical heterogeneity of RTT and its variants (e.g Classical, Hanefeld and PSV(Preserved Speech Variant)), the link between causative mutations and observed clinical phenotypes remains unclear. Quantitative analysis of electroencephalogram (EEG) recordings may further elucidate important differences between the different clinical and genetic forms of RTT.

Methods

Using a large cohort (n = 42) of RTT patients, we analysed the electrophysiological profiles of RTT variants (genetic and clinical) in addition to epilepsy status (no epilepsy/treatment-responsive epilepsy/treatment-resistant epilepsy). The distribution of spectral powe

SUBMITTER: Keogh C 

PROVIDER: S-EPMC6195747 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature