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Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes

We describe a cohort of 10 unrelated Greek patients (4 females, 6 males; median age 6.5 years, range 2–18 years) with heterogeneous epilepsy syndromes with a genetic basis. In these patients, causative genetic variants, including two novel ones, were identified in 9 known epilepsy-related genes thro...

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Detalles Bibliográficos
Autores principales: Zaganas, Ioannis, Vorgia, Pelagia, Spilioti, Martha, Mathioudakis, Lambros, Raissaki, Maria, Ilia, Stavroula, Giorgi, Melpomeni, Skoula, Irene, Chinitrakis, Georgios, Michaelidou, Kleita, Paraskevoulakos, Evangelos, Grafakou, Olga, Kariniotaki, Chariklia, Psyllou, Thekla, Zafeiris, Spiros, Tzardi, Maria, Briassoulis, George, Dinopoulos, Argirios, Mitsias, Panayiotis, Evangeliou, Athanasios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8449081/
https://www.ncbi.nlm.nih.gov/pubmed/34568804
http://dx.doi.org/10.1016/j.ebr.2021.100477