Literature DB >> 26873232

[Dystrophinopathy and Seizure].

Eri Takeshita1.   

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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Year:  2016        PMID: 26873232     DOI: 10.11477/mf.1416200362

Source DB:  PubMed          Journal:  Brain Nerve        ISSN: 1881-6096


  1 in total

1.  A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene.

Authors:  Jing Miao; Jia-Chun Feng; Dan Zhu; Xue-Fan Yu
Journal:  BMC Neurol       Date:  2016-12-12       Impact factor: 2.474

  1 in total

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