Literature DB >> 20375141

Neurological channelopathies: new insights into disease mechanisms and ion channel function.

Dimitri M Kullmann1, Stephen G Waxman.   

Abstract

Inherited mutations of ion channels provide unique insights into the mechanisms of many neurological diseases. However, they also provide a wealth of new information on the fundamental biology of ion channels and on neuron and muscle function. Ion channel genes are continuing to be discovered by positional cloning of disease loci. And some mutations provide unique tools to manipulate signalling cascades, which cannot be achieved by pharmacological intervention. Here we highlight some unanswered questions, and some promising areas for research that will likely lead to a fuller understanding of the link from molecular lesion to disease.

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Year:  2010        PMID: 20375141      PMCID: PMC2901970          DOI: 10.1113/jphysiol.2010.190652

Source DB:  PubMed          Journal:  J Physiol        ISSN: 0022-3751            Impact factor:   5.182


  19 in total

1.  Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia.

Authors:  Jin-Sung Choi; Xiaoyang Cheng; Edmund Foster; Andreas Leffler; Lynda Tyrrell; Rene H M Te Morsche; Emmanuella M Eastman; Henry J Jansen; Kathrin Huehne; Carla Nau; Sulayman D Dib-Hajj; Joost P H Drenth; Stephen G Waxman
Journal:  Brain       Date:  2010-05-16       Impact factor: 13.501

Review 2.  Sodium channels in normal and pathological pain.

Authors:  Sulayman D Dib-Hajj; Theodore R Cummins; Joel A Black; Stephen G Waxman
Journal:  Annu Rev Neurosci       Date:  2010       Impact factor: 12.449

Review 3.  Pain channelopathies.

Authors:  Roman Cregg; Aliakmal Momin; Francois Rugiero; John N Wood; Jing Zhao
Journal:  J Physiol       Date:  2010-02-08       Impact factor: 5.182

4.  Adaptive regulation of neuronal excitability by a voltage-independent potassium conductance.

Authors:  S G Brickley; V Revilla; S G Cull-Candy; W Wisden; M Farrant
Journal:  Nature       Date:  2001-01-04       Impact factor: 49.962

Review 5.  Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?

Authors:  E Matthews; M G Hanna
Journal:  J Physiol       Date:  2010-02-01       Impact factor: 5.182

6.  Can robots patch-clamp as well as humans? Characterization of a novel sodium channel mutation.

Authors:  M Estacion; J S Choi; E M Eastman; Z Lin; Y Li; L Tyrrell; Y Yang; S D Dib-Hajj; S G Waxman
Journal:  J Physiol       Date:  2010-02-01       Impact factor: 5.182

Review 7.  The self-tuning neuron: synaptic scaling of excitatory synapses.

Authors:  Gina G Turrigiano
Journal:  Cell       Date:  2008-10-31       Impact factor: 41.582

8.  Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.

Authors:  Chongyang Han; Sulayman D Dib-Hajj; Zhimiao Lin; Yan Li; Emmanuella M Eastman; Lynda Tyrrell; Xianwei Cao; Yong Yang; Stephen G Waxman
Journal:  Brain       Date:  2009-04-15       Impact factor: 13.501

9.  Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.

Authors:  Devon P Ryan; Magnus R Dias da Silva; Tuck Wah Soong; Bertrand Fontaine; Matt R Donaldson; Annie W C Kung; Wallaya Jongjaroenprasert; Mui Cheng Liang; Daphne H C Khoo; Jin Seng Cheah; Su Chin Ho; Harold S Bernstein; Rui M B Maciel; Robert H Brown; Louis J Ptácek
Journal:  Cell       Date:  2010-01-08       Impact factor: 41.582

10.  Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade.

Authors:  Xiaoyang Cheng; Sulayman D Dib-Hajj; Lynda Tyrrell; Stephen G Waxman
Journal:  Mol Pain       Date:  2008-01-02       Impact factor: 3.395

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  39 in total

Review 1.  High throughput screening technologies for ion channels.

Authors:  Hai-bo Yu; Min Li; Wei-ping Wang; Xiao-liang Wang
Journal:  Acta Pharmacol Sin       Date:  2015-12-14       Impact factor: 6.150

2.  Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area.

Authors:  Agata Polizzi; Gemma Incorpora; Piero Pavone; Martino Ruggieri; Grazia Annesi; Antonio Gambardella; Lorenzo Pavone; Aldo Quattrone
Journal:  Childs Nerv Syst       Date:  2011-10-20       Impact factor: 1.475

Review 3.  Subcellular localization of K+ channels in mammalian brain neurons: remarkable precision in the midst of extraordinary complexity.

Authors:  James S Trimmer
Journal:  Neuron       Date:  2015-01-21       Impact factor: 17.173

4.  Altered postnatal maturation of electrical properties in spinal motoneurons in a mouse model of amyotrophic lateral sclerosis.

Authors:  K A Quinlan; J E Schuster; R Fu; T Siddique; C J Heckman
Journal:  J Physiol       Date:  2011-02-28       Impact factor: 5.182

Review 5.  Mutational consequences of aberrant ion channels in neurological disorders.

Authors:  Dhiraj Kumar; Rashmi K Ambasta; Pravir Kumar
Journal:  J Membr Biol       Date:  2014-08-14       Impact factor: 1.843

6.  All for One But Not One for All: Excitatory Synaptic Scaling and Intrinsic Excitability Are Coregulated by CaMKIV, Whereas Inhibitory Synaptic Scaling Is Under Independent Control.

Authors:  Annelise Joseph; Gina G Turrigiano
Journal:  J Neurosci       Date:  2017-06-07       Impact factor: 6.167

7.  Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.

Authors:  Yu Liu; Luis F Lopez-Santiago; Yukun Yuan; Julie M Jones; Helen Zhang; Heather A O'Malley; Gustavo A Patino; Janelle E O'Brien; Raffaella Rusconi; Ajay Gupta; Robert C Thompson; Marvin R Natowicz; Miriam H Meisler; Lori L Isom; Jack M Parent
Journal:  Ann Neurol       Date:  2013-07-02       Impact factor: 10.422

8.  Ion channels and drug transporters as targets for anthelmintics.

Authors:  Robert M Greenberg
Journal:  Curr Clin Microbiol Rep       Date:  2014-12

9.  Protein-Protein Interactions as New Targets for Ion Channel Drug Discovery.

Authors:  Svetla Stoilova-McPhie; Syed Ali; Fernanda Laezza
Journal:  Austin J Pharmacol Ther       Date:  2013-12-31

10.  Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

Authors:  Asbjørg Stray-Pedersen; Jan-Maarten Cobben; Trine E Prescott; Sora Lee; Chunlei Cang; Kimberly Aranda; Sohnee Ahmed; Marielle Alders; Thorsten Gerstner; Kathinka Aslaksen; Martine Tétreault; Wen Qin; Taila Hartley; Shalini N Jhangiani; Donna M Muzny; Maja Tarailo-Graovac; Clara D M van Karnebeek; James R Lupski; Dejian Ren; Grace Yoon
Journal:  Am J Hum Genet       Date:  2015-12-17       Impact factor: 11.025

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