Literature DB >> 25119057

Mutational consequences of aberrant ion channels in neurological disorders.

Dhiraj Kumar1, Rashmi K Ambasta, Pravir Kumar.   

Abstract

Neurological channelopathies are attributed to aberrant ion channels affecting CNS, PNS, cardiac, and skeletal muscles. To maintain the homeostasis of excitable tissues, functional ion channels are necessary to rely electrical signals, whereas any malfunctioning serves as an intrinsic factor to develop neurological channelopathies. Molecular basis of these disease is studied based on genetic and biophysical approaches, e.g., loci positional cloning, whereas pathogenesis and bio-behavioral analysis revealed the dependency on genetic mutations and inter-current triggering factors. Although electrophysiological studies revealed the possible mechanisms of diseases, analytical study of ion channels remained unsettled and therefore underlying mechanism in channelopathies is necessary for better clinical application. Herein, we demonstrated (i) structural and functional role of various ion channels (Na(+), K(+), Ca(2+),Cl(-)), (ii) pathophysiology involved in the onset of their associated channelopathies, and (iii) comparative sequence and phylogenetic analysis of diversified sodium, potassium, calcium, and chloride ion channel subtypes.

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Year:  2014        PMID: 25119057     DOI: 10.1007/s00232-014-9716-2

Source DB:  PubMed          Journal:  J Membr Biol        ISSN: 0022-2631            Impact factor:   1.843


  336 in total

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Review 7.  From genes to pain: Na v 1.7 and human pain disorders.

Authors:  Sulayman D Dib-Hajj; Theodore R Cummins; Joel A Black; Stephen G Waxman
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8.  Initial segment Kv2.2 channels mediate a slow delayed rectifier and maintain high frequency action potential firing in medial nucleus of the trapezoid body neurons.

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Journal:  J Physiol       Date:  2008-05-29       Impact factor: 5.182

9.  Paroxysmal dyskinesias.

Authors:  Shyamal H Mehta; John C Morgan; Kapil D Sethi
Journal:  Curr Treat Options Neurol       Date:  2009-05       Impact factor: 3.598

Review 10.  Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

Authors:  Michael Pusch
Journal:  Hum Mutat       Date:  2002-04       Impact factor: 4.878

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