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

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

Epilepsy & Behavior Reports（2021）

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摘要

•We performed WES in 10 patients with presumed genetic epilepsy/epileptic encephalopathy.•Causative genetic variants found in 9 epilepsy-related genes.•Genes involved were AMT, EPM2A, GABRG2, GRIN2B, PDHX, SCN1A, SCN2A, SLC2A1, STXBP1.•In half of our patients: genetic cause with potential management implications.

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关键词

Epilepsy,Genetics,Whole exome sequencing,Next-generation sequencing,Inherited epilepsy

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