Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region

Pathogenic germline variants in the PIGT gene are associated with the “multiple congenital anomalies–hypotonia-seizures syndrome 3” (MCAHS3) phenotype. So far, fifty patients have been reported, most of whom suffer from intractable epilepsy. Recently, a comprehensive analysis of a cohort of 26 patie...

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Detalles Bibliográficos
Autores principales: Ben Ayed, Ikhlas, Jallouli, Olfa, Murakami, Yoshiko, Souissi, Amal, Mallouli, Salma, Bouzid, Amal, Kamoun, Fatma, Elloumi, Ines, Frikha, Fakher, Tlili, Abdelaziz, Weckhuysen, Sarah, Kinoshita, Taroh, Triki, Chahnez Charfi, Masmoudi, Saber
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/PMC10034188/
https://www.ncbi.nlm.nih.gov/pubmed/36970549
http://dx.doi.org/10.3389/fneur.2023.1092887

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