Case report: De novo variant of SETD1A causes infantile epileptic spasms syndrome

Infantile epileptic spasms syndrome (IESS) is one of the most common epileptic encephalopathies of infancy, with typical clinical features defined by a triad of epileptic spasms, hypsarrhythmia, and developmental delay. Genetic factors are important causes of IESS. The SETD1A (SET Domain Containing...

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Detalles Bibliográficos
Autores principales: Lan, Mingping, Wang, Yanjuan, Li, Sixiu, Zhao, Lili, Liu, Ping, Hu, Wenguang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620521/
https://www.ncbi.nlm.nih.gov/pubmed/37928142
http://dx.doi.org/10.3389/fneur.2023.1278035

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620521/
https://www.ncbi.nlm.nih.gov/pubmed/37928142
http://dx.doi.org/10.3389/fneur.2023.1278035

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