Developmental and Epileptic Encephalopathy 56 Due to YWHAG Variants: 12 New Cases and Review of the Literature.
Maria Eugenia Amato,Sol Balsells,Loreto Martorell,Adrián Alcalá San Martín, Karen Ansell,Malene Landbo Børresen, Heather Johnson,Christian Korff,Stephanie Garcia-Tarodo,Jeremie Lefranc,Anne-Sophie Denommé-Pichon,Elisabeth Sarrazin, Nora Zsuzsanna Szabo, Jorge M. Saraiva,Dorota Wicher, Anne Goverde,Karen G.C.B. Bindels-de Heus,Tahsin Stefan Barakat,Juan Darío Ortigoza-Escobar European Journal of Paediatric Neurology（2024）
关键词
YWHAG,Epilepsy,Ataxia,Intellectual disability,Febrile seizures
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