Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

IntroductionPhenotypic spectrum of SLC6A1-related neurodevelopmental disorders (SLC6A1-NDD) includes intellectual disability (ID), autistic spectrum disorders (ASD), epilepsy, developmental delay, beginning from early infancy or after seizure onset, and other neurological features such as hypotonia...

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Main Authors: Benedetta Kassabian, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Rikke S. Møller, Katrine M. Johannesen, Guido Rubboli
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Neuroscience
Subjects:
SLC6A1
intrafamilial variability
epilepsy
neurodevelopmental disorders
intellectual disability
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2023.1219262/full

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https://www.frontiersin.org/articles/10.3389/fnins.2023.1219262/full

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