The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders

INTRODUCTION: SLC6A1 is one of the most common monogenic causes of epilepsy and is a well-established cause of neurodevelopmental disorders. SLC6A1-neurodevelopmental disorders have a consistent phenotype of mild to severe intellectual disability (ID), epilepsy, language delay and behavioral disorde...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472133/
https://www.ncbi.nlm.nih.gov/pubmed/37662110
http://dx.doi.org/10.3389/fnins.2023.1216653

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472133/
https://www.ncbi.nlm.nih.gov/pubmed/37662110
http://dx.doi.org/10.3389/fnins.2023.1216653

Ejemplares similares