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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Hlavní autoři:	Ioannis Zaganas, Pelagia Vorgia, Martha Spilioti, Lambros Mathioudakis, Maria Raissaki, Stavroula Ilia, Melpomeni Giorgi, Irene Skoula, Georgios Chinitrakis, Kleita Michaelidou, Evangelos Paraskevoulakos, Olga Grafakou, Chariklia Kariniotaki, Thekla Psyllou, Spiros Zafeiris, Maria Tzardi, George Briassoulis, Argirios Dinopoulos, Panayiotis Mitsias, Athanasios Evangeliou
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2021-01-01
Edice:	Epilepsy & Behavior Reports
Témata:	Epilepsy Genetics Whole exome sequencing Next-generation sequencing Inherited epilepsy
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S2589986421000514
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