Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication

Copy number variations (CNVs) have been related to developmental and epileptic encephalopathy (DEE). The 2q24.3 region includes a cluster of genes for voltage-gated sodium channels (SCN) and CNVs in this region cause DEE. However, the long-term course of DEE with a 2q24.3 duplication has not been de...

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Detalles Bibliográficos
Autores principales: Masuda, Takuya, Osaka, Hitoshi, Tsuchida, Naomi, Miyatake, Satoko, Nishimura, Kou, Takenouchi, Toshiki, Takahashi, Takao, Matsumoto, Naomichi, Yamagata, Takanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9207545/
https://www.ncbi.nlm.nih.gov/pubmed/35733834
http://dx.doi.org/10.1016/j.ebr.2022.100547

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