Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the SLC6A1 Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male Patient

INTRODUCTION: Diagnostic exome sequencing has yielded over the past decades a great number of molecular diagnoses for genetic disorders in which both intellectual disability and epilepsy are present. One of these syndromes is myoclonic-atonic epilepsy (MAE) that is caused by pathogenic variants in t...

Descripción completa

Detalles Bibliográficos
Autores principales: Verhoeven, Willem, Zuijdam, José, Scheick, Anneke, van Nieuwenhuijsen, Frederiek, Zwemer, Anne-Suus, Pfundt, Rolph, Egger, Jos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9793742/
https://www.ncbi.nlm.nih.gov/pubmed/36582431
http://dx.doi.org/10.2147/IMCRJ.S390636

Ejemplares similares

Ejemplares similares