Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy

被引:11
|
作者
Spagnoli, Carlotta [1 ]
Soliani, Luca [1 ]
Caraffi, Stefano Giuseppe [2 ]
Baga, Margherita [1 ]
Rizzi, Susanna [1 ]
Salerno, Grazia Gabriella [1 ]
Frattini, Daniele [1 ]
Garavelli, Livia [2 ]
Koskenvuo, Juha [3 ]
Pisani, Francesco [4 ]
Fusco, Carlo [1 ]
机构
[1] Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Dipartimento Maternoinfantile, Struttura Complessa Neuropsichiatria Infantile, Reggio Emilia, Italy
[2] Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Struttura Semplice Dipartimentale Genet Clin, Dipartimento Maternoinfantile, Reggio Emilia, Italy
[3] Blueprint Genet, Helsinki, Finland
[4] Univ Parma, Med & Surg Dept, Neurosci Div, Child Neuropsychiatry Unit, Parma, Italy
关键词
RHOBTB2; Epileptic encephalopathy; Movement disorder; Neurogenetics; Carbamazepine; VARIANTS;
D O I
10.1016/j.parkreldis.2020.05.031
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:54 / 55
页数:2
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