Literature DB >> 18206787

Channelopathies: a review.

Genevieve Bernard1, Michael I Shevell.   

Abstract

Channelopathies are a recently delineated, emerging group of neurologic disorders united by genetically determined defects in ion-channel function. These disorders are characterized by a prominent genetic and phenotypic heterogeneity that can make them challenging and bewildering to understand. This systematic review attempts to categorize these disorders according to their predominant clinical manifestations (i.e., myotonia, weakness, migraine, ataxia, epilepsy, and movement disorders) within the context of what is presently known about the molecular basis of recognized clinical syndromes. Areas of both genetic and phenotypic overlap are highlighted. The review is intended to assist clinicians in enhancing their diagnostic acumen and in targeting specific genetic tests.

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Year:  2008        PMID: 18206787     DOI: 10.1016/j.pediatrneurol.2007.09.007

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


  20 in total

Review 1.  How to resolve microsecond current fluctuations in single ion channels: the power of beta distributions.

Authors:  Indra Schroeder
Journal:  Channels (Austin)       Date:  2015       Impact factor: 2.581

2.  Genomic organization, expression, and phylogenetic analysis of Ca2+ channel beta4 genes in 13 vertebrate species.

Authors:  Alicia M Ebert; Catherine A McAnelly; Anne V Handschy; Rachel Lockridge Mueller; William A Horne; Deborah M Garrity
Journal:  Physiol Genomics       Date:  2008-08-05       Impact factor: 3.107

3.  Impaired expression and function of group II metabotropic glutamate receptors in pilocarpine-treated chronically epileptic rats.

Authors:  Emilio R Garrido-Sanabria; Luis F Pacheco Otalora; Massoud F Arshadmansab; Berenice Herrera; Sebastian Francisco; Boris S Ermolinsky
Journal:  Brain Res       Date:  2008-09-10       Impact factor: 3.252

4.  Prototype for automatable, dielectrophoretically-accessed intracellular membrane-potential measurements by metal electrodes.

Authors:  Ulrich Terpitz; Vladimir L Sukhorukov; Dirk Zimmermann
Journal:  Assay Drug Dev Technol       Date:  2012-09-20       Impact factor: 1.738

5.  Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.

Authors:  Changshui Xu; Junjia Qi; Yingying Shi; Yan Feng; Weizhou Zang; Jiewen Zhang
Journal:  Int J Clin Exp Pathol       Date:  2015-01-01

6.  ERRgamma regulates cardiac, gastric, and renal potassium homeostasis.

Authors:  William A Alaynick; James M Way; Stephanie A Wilson; William G Benson; Liming Pei; Michael Downes; Ruth Yu; Johan W Jonker; Jason A Holt; Deepak K Rajpal; Hao Li; Joan Stuart; Ruth McPherson; Katja S Remlinger; Ching-Yi Chang; Donald P McDonnell; Ronald M Evans; Andrew N Billin
Journal:  Mol Endocrinol       Date:  2009-12-04

Review 7.  Toward rational design of electrical stimulation strategies for epilepsy control.

Authors:  Sridhar Sunderam; Bruce Gluckman; Davide Reato; Marom Bikson
Journal:  Epilepsy Behav       Date:  2009-11-17       Impact factor: 2.937

Review 8.  The phenotypic spectrum of paediatric neurotransmitter diseases and infantile parkinsonism.

Authors:  R Pons
Journal:  J Inherit Metab Dis       Date:  2008-12-26       Impact factor: 4.982

Review 9.  Endothelin receptors and pain.

Authors:  Alla Khodorova; Jean-Pierre Montmayeur; Gary Strichartz
Journal:  J Pain       Date:  2009-01       Impact factor: 5.820

10.  Neurologic and neuroimaging manifestations of Cantú syndrome: A case series.

Authors:  Christopher R Leon Guerrero; Sheel Pathak; Dorothy K Grange; Gautam K Singh; Colin G Nichols; Jin-Moo Lee; Katie D Vo
Journal:  Neurology       Date:  2016-06-17       Impact factor: 9.910

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