Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana

Here we report a case of developmental and epileptic encephalopathy related to RHOBTB2 gene mutation in a ten‐month old infant in French Guiana. Although the 28 previously reported cases had early‐onset epilepsy and severe intellectual disability, here the reported individual presented with late pos...

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Detalles Bibliográficos
Autores principales: Defo, Antoine, Verloes, Alain, Elenga, Narcisse
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184662/
https://www.ncbi.nlm.nih.gov/pubmed/35315256
http://dx.doi.org/10.1002/mgg3.1929

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184662/
https://www.ncbi.nlm.nih.gov/pubmed/35315256
http://dx.doi.org/10.1002/mgg3.1929

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