Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature

Previous studies have suggested that the ACTL6B monoallelic variant is responsible for an autosomal dominant inherited intellectual developmental disorder with severe speech and ambulation deficits. The clinical phenotype of developmental and epileptic encephalopathy type 76 (DEE76) due to ACTL6B bi...

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Detalles Bibliográficos
Autores principales: Han, Xiaodi, Deng, Jie, Chen, Chunhong, Wang, Xiaohui, Fang, Fang, Li, Hua, Luo, Jie, Wu, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777507/
https://www.ncbi.nlm.nih.gov/pubmed/36553410
http://dx.doi.org/10.3390/children9121967

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777507/
https://www.ncbi.nlm.nih.gov/pubmed/36553410
http://dx.doi.org/10.3390/children9121967

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