The phenotypic presentation of adult individuals with SCL6A1-related neurodevelopmental disorders.

Publication

The phenotypic presentation of adult individuals with SCL6A1-related neurodevelopmental disorders.

Journal Paper/Review - Aug 17, 2023

Johannesen Katrine M, Nielsen Jimmi, Sabers Anne, Isidor Bertrand, Kattentidt-Mouravieva Anja A, Zieglgänsberger Dominik, Heidlebaugh Alexis R, Oetjens Kathryn F, Vidal Anna Abuli, Christensen Jakob, Tiller Jacob, Freed Amber N, Møller Rikke S, Rubboli Guido

Citation

Johannesen K, Nielsen J, Sabers A, Isidor B, Kattentidt-Mouravieva A, Zieglgänsberger D, Heidlebaugh A, Oetjens K, Vidal A, Christensen J, Tiller J, Freed A, Møller R, Rubboli G. The phenotypic presentation of adult individuals with SCL6A1-related neurodevelopmental disorders. Front Neurosci 2023; 17:1216653.

Type

Journal Paper/Review (English)

Journal

Front Neurosci 2023; 17

Publication Date

Aug 17, 2023

Issn Print

1662-4548

Pages

1216653

Brief description/objective

SLC6A1 is one of the most common monogenic causes of epilepsy and is a well-established cause of neurodevelopmental disorders. -neurodevelopmental disorders have a consistent phenotype of mild to severe intellectual disability (ID), epilepsy, language delay and behavioral disorders. This phenotypic description is mainly based on knowledge from the pediatric population.