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Dystrophinopathy and Seizure Eri Takeshita 1 1Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry Keyword: デュシェンヌ型筋ジストロフィー , ベッカー型筋ジストロフィー , ジストロフィン , 熱性けいれん , てんかん , Duchenne muscular dystrophy , Becker muscular dystrophy , dystrophin , febrile seizure , epilepsy pp.128-136
Published Date 2016/2/1
DOI https://doi.org/10.11477/mf.1416200362
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Abstract

Dystrophinopathy is associated strongly with central nervous system manifestation. It has been reported that 4%-15% of patients with dystrophinopathy have febrile seizure, and 2%-12% have epilepsy. In our study, 8% of patients had febrile seizure, and it was more common in patients with mutations downstream of exon 45, especially exon 63. Epilepsy occurred in 5% of our patients, and the prevalence in Becker muscular dystrophy was higher than that in Duchenne muscular dystrophy. Isoforms such as Dp427 and Dp71, expressed in the central nervous system. might be related to seizure, because of impairment in GABAA receptors, aquaporin 4, and K channels.


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電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院

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