Stereotyped Upper Limb Movement in MECP2 Duplication Syndrome
| Autor: | Satoru Takahashi, Kosuke Tsuchida, Takeshi Tsugawa, Shuichi Miyamoto, Yoshiyuki Sakai, Yukihiko Kawasaki, Tomohiro Wakabayashi, Shinobu Fukumura, Shinsuke Kato, Kenji Kurosawa |
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| Rok vydání: | 2021 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.diagnostic_test business.industry Movement (music) MECP2 duplication syndrome Electroencephalography medicine.disease nervous system diseases Xq28 Epilepsy medicine.anatomical_structure medicine Upper limb Neurology (clinical) Abnormality business Neuroscience Comparative genomic hybridization |
| Zdroj: | Neurology. 97:92-94 |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/wnl.0000000000012130 |
| Popis: | A 23-year-old man had epilepsy, mental retardation, and a stereotyped movement (figure 1 and video1), which was exacerbated by emotion. No abnormality was detected in the EEG during this movement. Array comparative genomic hybridization showed a Xq28 duplication: arr[GRCh37]Xq28(153032004_153406233)x2 (figure 2). |
| Databáze: | OpenAIRE |
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