Literature DB >> 10728205

Epilepsy in Duchenne and Becker muscular dystrophies.

F Goodwin1, F Muntoni, V Dubowitz.   

Abstract

Duchenne and Becker muscular dystrophies are X-linked allelic disorders in which the association of central nervous system dysfunction, typically in the form of mental retardation, is a well recognized feature. They are both due to mutations in the dystrophin gene, whose corresponding protein products are expressed both in the muscle and central nervous system. We have observed an increased frequency of epilepsy in children with Duchenne and Becker muscular dystrophy attending our clinic. Out of 254 boys with this condition (201 Duchenne and 53 Becker), eight children, four in the Duchenne and four in the Becker group, had a confirmed diagnosis of epilepsy (cumulative incidence 3.14%, with a subgroup incidence of 1.99% in the Duchenne and 7.54% in the Becker group). Statistical analysis indicated that only the incidence of epilepsy in Becker muscular dystrophy was significant (p < 0.007). Our data suggests that epilepsy may be a rare associated feature in children with muscular dystrophy secondary to dystrophin deficiency.

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Year:  1997        PMID: 10728205     DOI: 10.1016/s1090-3798(97)80042-6

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN: 1090-3798            Impact factor:   3.140


  9 in total

1.  Loss of perivascular aquaporin 4 may underlie deficient water and K+ homeostasis in the human epileptogenic hippocampus.

Authors:  Tore Eid; Tih-Shih W Lee; Marion J Thomas; Mahmood Amiry-Moghaddam; Lars P Bjørnsen; Dennis D Spencer; Peter Agre; Ole P Ottersen; Nihal C de Lanerolle
Journal:  Proc Natl Acad Sci U S A       Date:  2005-01-18       Impact factor: 11.205

Review 2.  Cardiac involvement in Becker muscular dystrophy.

Authors:  Josef Finsterer; Claudia Stöllberger
Journal:  Can J Cardiol       Date:  2008-10       Impact factor: 5.223

3.  Dystrophin Distribution and Expression in Human and Experimental Temporal Lobe Epilepsy.

Authors:  Ruben G F Hendriksen; Sandra Schipper; Govert Hoogland; Olaf E M G Schijns; Jim T A Dings; Marlien W Aalbers; Johan S H Vles
Journal:  Front Cell Neurosci       Date:  2016-07-08       Impact factor: 5.505

4.  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

5.  Influence of full-length dystrophin on brain volumes in mouse models of Duchenne muscular dystrophy.

Authors:  Bauke Kogelman; Artem Khmelinskii; Ingrid Verhaart; Laura van Vliet; Diewertje I Bink; Annemieke Aartsma-Rus; Maaike van Putten; Louise van der Weerd
Journal:  PLoS One       Date:  2018-03-30       Impact factor: 3.240

6.  Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy.

Authors:  Nathalie Doorenweerd; Ahmed Mahfouz; Maaike van Putten; Rajaram Kaliyaperumal; Peter A C T' Hoen; Jos G M Hendriksen; Annemieke M Aartsma-Rus; Jan J G M Verschuuren; Erik H Niks; Marcel J T Reinders; Hermien E Kan; Boudewijn P F Lelieveldt
Journal:  Sci Rep       Date:  2017-10-03       Impact factor: 4.379

Review 7.  Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy.

Authors:  Michael Naidoo; Karen Anthony
Journal:  Mol Neurobiol       Date:  2019-12-13       Impact factor: 5.590

Review 8.  Towards Central Nervous System Involvement in Adults with Hereditary Myopathies.

Authors:  Jens Reimann; Cornelia Kornblum
Journal:  J Neuromuscul Dis       Date:  2020

9.  Identifying the temporal electrophysiological and molecular changes that contribute to TSC-associated epileptogenesis.

Authors:  Linda Mc Koene; Eva Niggl; Ilse Wallaard; Martina Proietti-Onori; Diana C Rotaru; Ype Elgersma
Journal:  JCI Insight       Date:  2021-12-08
  9 in total

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