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Neurological disorders / Gene expression / Protein biosynthesis / Generalized epilepsy with febrile seizures plus / Microsatellite / Spinocerebellar ataxia / Nav1.1 / Mutation / Genetic code / Biology / Genetics / Channelopathy


Downloaded from jmg.bmjjournals.com on 8 February[removed]Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia and mental retardation Michelle M Trudeau, Jol
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Document Date: 2009-10-27 15:32:36

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City

Washington / DC / /

Company

Matsushita / Cummins / F TTT CTG CTG GGG CTA GTT AG / Qiagen / TTG AG / BMJ Publishing Group Ltd / Ranum LP / Miriam H. Meisler1 / /

Country

United States / /

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Facility

University of Michigan Medical School Ann Arbor / C terminus / University of Michigan DNA Sequencing Core / Institute of Human Genetics / University of Minnesota / University of Michigan / /

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IndustryTerm

peripheral nervous systems / unstable site / Online First articles / interaction site / wildtype product / Online First / /

MedicalCondition

inherited and sporadic epilepsies / Severe myoclonic epilepsy / familial autism / Smith-Magenis syndrome / neurological disorders / ataxia families / progressive paralysis / muscle weakness / infantile spasms / tremor / frequent generalized tonic-clonic seizures / sporadic ataxia / ataxia genes SCA1 / stimulant-responsive attention deficit disorder / ataxia / Ashizawa T. Spinocerebellar ataxia type / dysmetria / bilateral esophoria / ADHD / mental retardation / intractable childhood epilepsies / strabismatic amblyopia / disease / severe seizure disorder / autism / unrelated developmental disorder / notable ataxia / psychiatric disorders / mild cognitive impairment / conduction disorder / common deafness / motor endplate disease / epilepsy / dystonia / deficiency / ataxia and other movement disorders / disorders / /

Organization

Institute of Human Genetics / National Institute of Health / University of Michigan / Ann Arbor / University of Michigan Medical School Ann Arbor / University of Minnesota / Minneapolis / National Ataxia Foundation / Wilson Family Medical Foundation / Internal Review Board / University of Michigan DNA Sequencing Core / Exon / Society for Neuroscience / the University of Michigan / /

Person

Van Broeckhoven / Joline C Dalton / Miriam H Meisler / Michelle M Trudeau / ACA AGC ACC CTG TTT / AGA GCT GCC TGA TCT / AGA CAG TG / ACA ACA TTC CAA AGG TCT / Jeffrey Innis / ACA CAG AAA TGG CTG / AGA GA / John W Day / ACA CCT TCT CGG / Donna Martin / Kang J. Activity-dependent / ACA GTA AAG CCA TTC / AGA GTG AGT AGT GTG / /

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Position

Abstract Viewer/Itinerary Planner / Copyright Article author / Corresponding author / Professor / /

Product

Lamotrigine / /

ProvinceOrState

Minnesota / Michigan / Montana / /

Technology

alpha / Genomics / Neuroscience / Genotyping / ATG / MRI / single nucleotide polymorphism / DNA Sequencing / SNP / digital object identifier / gel electrophoresis / CAT / /

URL

http /

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