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

Carlotta Spagnoli,Luca Soliani,Stefano Giuseppe Caraffi,Margherita Baga,Susanna Rizzi,Grazia Gabriella Salerno,Daniele Frattini,Livia Garavelli,Juha Koskenvuo,Francesco Pisani,Carlo Fusco

Parkinsonism & Related Disorders（2020）

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摘要

•RHOBTB2 gene variants cause early infantile epileptic encephalopathy type 64.•Neurological phenotype includes epileptic encephalopathy and movement disorder.•Little is known on therapeutic strategies for movement disorder.•Carbamazepine can be effective on RHOBTB2-related paroxysmal dyskinesia.

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关键词

RHOBTB2,Epileptic encephalopathy,Movement disorder,Neurogenetics,Carbamazepine

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