The Phenotypic Spectrum of X‐linked, Infantile Onset ALG13‐related Developmental and Epileptic Encephalopathy
Alexandre N. Datta,Nadia Bahi-Buisson,Thierry Bienvenu,Sarah E. Buerki,Fiona Gardiner,J. Helen Cross,Benedicte Heron,Anna Kaminska,Christian M. Korff,Anne Lepine,Gaetan Lesca,Amy McTague,Heather C. Mefford,Cyrill Mignot,Matthieu Milh,Amelie Piton,Ronit M. Pressler,Susanne Ruf,Lynette G. Sadleir,Anne de Saint Martin,Koen Van Gassen,Nienke E. Verbeek,Dorothee Ville,Nathalie Villeneuve,Pia Zacher,Ingrid E. Scheffer,Johannes R. Lemke Epilepsia(2021)
关键词
ALG13,developmental and epileptic encephalopathy,epileptic spasms,West syndrome
AI 理解论文
溯源树
样例