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Benign Adult Familial Myoclonic Epilepsy (BAFME)
https://kwmed.repo.nii.ac.jp/records/320
https://kwmed.repo.nii.ac.jp/records/320d5bde918-b4f8-459c-92f2-ec1060b35475
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
KJ00010206879.pdf (1.3 MB)
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| Item type | [ELS]学術雑誌論文 / Journal Article(1) | |||||||
|---|---|---|---|---|---|---|---|---|
| 公開日 | 2017-01-23 | |||||||
| タイトル | ||||||||
| タイトル | Benign Adult Familial Myoclonic Epilepsy (BAFME) | |||||||
| 言語 | en | |||||||
| 言語 | ||||||||
| 言語 | eng | |||||||
| 資源タイプ | ||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||||
| 資源タイプ | journal article | |||||||
| 著者 |
YASUDA, Takeshi
× YASUDA, Takeshi
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| 著者所属(英) | ||||||||
| en | ||||||||
| Department of Neurology, Kawasaki Medical School | ||||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | Myoclonic epilepsy | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | Cortical reflex myoclonus | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | Autosomal dominant inheritance | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | C reflex | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | Valproic acid | |||||||
| 記事種別(英) | ||||||||
| 内容記述タイプ | Other | |||||||
| 内容記述 | Original Article | |||||||
| 言語 | en | |||||||
| 抄録(英) | ||||||||
| en | ||||||||
| Fourteen of the 26 members of two families with hereditary myoclonic epilepsy were studied, and the following findings were obtained. The disease was transmitted by autosomal dominant inheritance, and the onset was observed after adolescence with tremulous finger movement and/or myoclonus of the extremities. The clinical course was nonprogressive and neither dementia nor cerebellar ataxia developed during observation of over 10 years. The myoclonus appeared predominantly in the four extremities, not only at rest but also on posturing or in action, and it was increased by fatigue, insomnia or photic stimulations. Epileptic seizures appeared in 12 patients, though the frequency of seizures was relatively rare. Usually, increased diffuse myoclonic jerks were followed by generalized tonic-clonic convulsions. Electroencephalograms showed generalized spikes or polyspikes and wave complexes, and some patients exhibited photosensitivities. The amplitudes of somatosensory and visual evoked potentials increased, and the C reflex, which is a long-loop reflex, could be recorded in all cases at rest. By the jerk-locked averaging method, a positive spike time-locked to the myoclonic jerk was demonstrated in four patients before 15-20 msec of myoclonic jerk. These findings indicated "cortical reflex myoclonus". Valproates were markedly effective for its treatment. I proposed the new term "benign adult familial myoclonic epilepsy (BAFME)" for this disease. | ||||||||
| 書誌情報 |
en : Kawasaki medical journal 巻 17, 号 1-4, p. 1-13, 発行日 1991 |
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| URL | ||||||||
| 識別子 | http://igakkai.kms-igakkai.com/wp/wp-content/uploads/1991en/17(1.2.3.4)1-13.1991.pdf | |||||||
| 識別子タイプ | URI | |||||||
| DOI | ||||||||
| 識別子タイプ | DOI | |||||||
| 関連識別子 | https://doi.org/10.11482/KMJ-E17(1.2.3.4)1-13.1991 | |||||||
| ISSN | ||||||||
| 収録物識別子タイプ | PISSN | |||||||
| 収録物識別子 | 0385-0234 | |||||||
| ISSN | ||||||||
| 収録物識別子タイプ | EISSN | |||||||
| 収録物識別子 | 2434-3404 | |||||||
| 雑誌書誌ID | ||||||||
| 収録物識別子タイプ | NCID | |||||||
| 収録物識別子 | AA00710169 | |||||||
| 雑誌書誌ID | ||||||||
| 収録物識別子タイプ | NCID | |||||||
| 収録物識別子 | AA12029005 | |||||||
| 著者版フラグ | ||||||||
| 出版タイプ | VoR | |||||||
