Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy

BACKGROUND: Developmental and epileptic encephalopathies (DEEs) signify a group of heterogeneous neurodevelopmental disorder associated with early-onset seizures accompanied by developmental delay, hypotonia, mild to severe intellectual disability, and developmental regression. Variants in the DNM1...

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Detalles Bibliográficos
Autores principales: Afsar, Tayyaba, Huang, Xiaoyun, Shah, Abid Ali, Abbas, Safdar, Bano, Shazia, Mahmood, Arif, Hu, Junjian, Razak, Suhail, Umair, Muhammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601988/
https://www.ncbi.nlm.nih.gov/pubmed/37900685
http://dx.doi.org/10.3389/fped.2023.1266376

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601988/
https://www.ncbi.nlm.nih.gov/pubmed/37900685
http://dx.doi.org/10.3389/fped.2023.1266376

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