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

Publikation

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

Wissenschaftlicher Artikel/Review - 17.08.2023

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

Zitation

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.

Art

Wissenschaftlicher Artikel/Review (Englisch)

Zeitschrift

Front Neurosci 2023; 17

Veröffentlichungsdatum

17.08.2023

ISSN (Druck)

1662-4548

Seiten

1216653

Kurzbeschreibung/Zielsetzung

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.