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Integral membrane proteins / Ion channels / Neurological disorders / Episodic ataxia / Purkinje cell / Action potential / Sodium channel / Inward-rectifier potassium ion channel / Paramyotonia congenita / Biology / Electrophysiology / Channelopathy


The Journal of Neuroscience, October 1, 1996, 16(19):5993–5999 A Missense Mutation in the Sodium Channel Scn8a Is Responsible for Cerebellar Ataxia in the Mouse Mutant jolting David C. Kohrman,1 Marianne R. Smith,2 Al
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Document Date: 2009-10-27 15:32:32

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City

Ann Arbor / Hilden / New York / Newcastle upon Tyne / Santiago / Foster City / Richmond / /

Company

Kodak / The Jackson Laboratory / 3Muscular Dystrophy Group Research Laboratories / Qiagen / Cox / Bio-Rad / /

Country

Germany / United Kingdom / /

Currency

USD / /

Event

Product Issues / Man-Made Disaster / /

Facility

University of Newcastle / Bar Harbor / Newcastle General Hospital / University of California-Irvine / University of Michigan Medical School / University of Michigan / /

IndustryTerm

insertion site / external solution / local alignment search tool / internal solution / translation start site / bath recording solution / /

MedicalCondition

inherited muscle disorders / neurological disorders / progressive paralysis / muscle diseases / acetazolamide-responsive myotonia congenita / nerve diseases / cerebellar ataxias / myotonia and periodic paralysis / rhythmical tremor / cerebellar dysfunction / inherited cerebellar ataxia / inherited cerebellar ataxias / ataxia / Cerebellar Ataxia / hyperkalemic periodic paralysis / paralysis / myotonia / Human spinocerebellar ataxia / Episodic ataxia/myokymia syndrome / severe muscle atrophy / dominantly inherited disorders / motor end-plate disease / motor endplate disease / disorders / autosomal recessive disease / paramyotonia congenita / /

NaturalFeature

Sodium channel / /

Organization

University of California / Miriam H. Meisler1 Department of Human Genetics / University of Michigan / Ann Arbor / University of Michigan Medical School / Regional Neurological Centre / National Multiple Sclerosis Society / Newcastle General Hospital / University of Newcastle / American Heart Association / Department of Human Genetics / Society for Neuroscience / the University of Michigan / /

Person

David C. Kohrman / Miriam Meisler / Leslie Sprunger / Jane Santoro / /

Position

Established Investigator / Representative / /

Product

depen / SC / gentamicin / soma / acetazolamide / theophylline / motor function / /

ProgrammingLanguage

DC / /

ProvinceOrState

Alabama / Michigan / California / /

PublishedMedium

Microbiology / The Journal of Neuroscience / /

Technology

Genomics / Neuroscience / Hybridization / directed mutagenesis / positional cloning / electroporation / site-specific mutagenesis / DNA sequencing / BLAST algorithm / gel electrophoresis / searched using the BLAST algorithm / /

SocialTag