Literature DB >> 8795846

Channelopathies: the nondystrophic myotonias and periodic paralyses.

F Lehmann-Horn1, R Rüdel.   

Abstract

The term channelopathy does not indicate a new group of neuromuscular conditions, but a re-orientation of well- and long-known muscular conditions, the congenital myotonias, and the periodic paralyses. Although, in the past, they have overlapped clinically here and there, both groups were classified differently, as myotonias and as metabolic myopathies, respectively. The discovery of mutations in several ion channels has rewritten nosography of these disorders and procured a new term, the channelopathy-clinical, electrophysiological, and molecular genetic details of which are discussed in this chapter.

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Year:  1996        PMID: 8795846     DOI: 10.1016/s1071-9091(96)80041-6

Source DB:  PubMed          Journal:  Semin Pediatr Neurol        ISSN: 1071-9091            Impact factor:   1.636


  5 in total

1.  Treatment and management of neuromuscular channelopathies.

Authors:  Lydia Sharp; Jaya R Trivedi
Journal:  Curr Treat Options Neurol       Date:  2014-10       Impact factor: 3.598

2.  Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.

Authors:  Juan Zhao; Nicolas Duprè; Jack Puymirat; Mohamed Chahine
Journal:  J Physiol       Date:  2012-01-16       Impact factor: 5.182

3.  Nondystrophic myotonia: challenges and future directions.

Authors:  Jaya R Trivedi; Stephen C Cannon; Robert C Griggs
Journal:  Exp Neurol       Date:  2013-12-18       Impact factor: 5.330

Review 4.  Skeletal Muscle Channelopathies.

Authors:  Lauren Phillips; Jaya R Trivedi
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

5.  Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.

Authors:  Jaya R Trivedi; Brian Bundy; Jeffrey Statland; Mohammad Salajegheh; Dipa Raja Rayan; Shannon L Venance; Yunxia Wang; Doreen Fialho; Emma Matthews; James Cleland; Nina Gorham; Laura Herbelin; Stephen Cannon; Anthony Amato; Robert C Griggs; Michael G Hanna; Richard J Barohn
Journal:  Brain       Date:  2013-06-13       Impact factor: 13.501

  5 in total

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