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      [Dystrophinopathy and Seizure].

      1
      Brain and nerve = Shinkei kenkyu no shinpo

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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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          Author and article information

          Journal
          Brain Nerve
          Brain and nerve = Shinkei kenkyu no shinpo
          1881-6096
          1881-6096
          Feb 2016
          : 68
          : 2
          Affiliations
          [1 ] Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry.
          Article
          1416200362
          10.11477/mf.1416200362
          26873232
          d7a04a95-6cd5-4b34-8e15-37bf7b725e27
          History

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