SHROOM4 Variants Are Associated With X-Linked Epilepsy With Features of Generalized Seizures or Generalized Discharges

OBJECTIVE: SHROOM4 gene encodes an actin-binding proteins, which plays an important role in cytoskeletal architecture, synaptogenesis, and maintaining gamma-aminobutyric acid receptors-mediated inhibition. SHROOM4 mutations were reported in patients with the Stocco dos Santos type of X-linked syndro...

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Detalles Bibliográficos
Autores principales: Bian, Wen-Jun, Li, Zong-Jun, Wang, Jie, Luo, Sheng, Li, Bing-Mei, Gao, Liang-Di, He, Na, Yi, Yong-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9157246/
https://www.ncbi.nlm.nih.gov/pubmed/35663265
http://dx.doi.org/10.3389/fnmol.2022.862480

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9157246/
https://www.ncbi.nlm.nih.gov/pubmed/35663265
http://dx.doi.org/10.3389/fnmol.2022.862480

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