A case of severe movement disorder with GNAO1 mutation responsive to topiramate

Abstract We report the case of a 19-year-old female patient who had progressive chorea associated with a GNAO1 mutation. Chorea was refractory to multiple anticonvulsants, and the patient suffered from tiapride-induced neuroleptic malignant syndrome. After identification of a GNAO1 missense mutation...

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Veröffentlicht in:	Brain & development (Tokyo. 1979) 2017-05, Vol.39 (5), p.439-443
Hauptverfasser:	Sakamoto, Saori, Monden, Yukifumi, Fukai, Ryoko, Miyake, Noriko, Saito, Hiroshi, Miyauchi, Akihiko, Matsumoto, Ayumi, Nagashima, Masako, Osaka, Hitoshi, Matsumoto, Naomichi, Yamagata, Takanori
Format:	Artikel
Sprache:	eng
Schlagworte:	Chorea Databases, Bibliographic - statistics & numerical data Female Fructose - analogs & derivatives Fructose - therapeutic use GNAO1 GTP-Binding Protein alpha Subunits, Gi-Go - genetics Humans Magnetic Resonance Imaging Movement Disorders - diagnostic imaging Movement Disorders - drug therapy Movement Disorders - genetics Mutation - genetics Neurology Neuroprotective Agents - therapeutic use Pediatrics Pharmacogenetics Treatment Outcome Young Adult
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