Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
about
GABA and Glutamate Transporters in BrainThe palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's diseaseThe cerebellum and migraineMolecular targets for antiepileptic drug developmentThe Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation MedicineThe Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and SenescenceMechanisms of glutamate transportEpisodic Ataxias: Clinical and Genetic FeaturesWhole transcriptome RNA-Seq allelic expression in human brainAlternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF RegistryChronic Hyponatremia Causes Neurologic and Psychologic ImpairmentsIncreased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis.Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.Glutamate as a neurotransmitter in the healthy brainParoxysmal dyskinesias.Genes and genetic testing in hereditary ataxias.Congenic strains provide evidence that a mapped locus on chromosome 15 influences excitotoxic cell deathGene expression deficits in pontine locus coeruleus astrocytes in men with major depressive disorderDrosophila melanogaster as a genetic model system to study neurotransmitter transporters.Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?Genetics of recurrent vertigo and vestibular disordersPolymorphism of the Glutamate Transporter Protein EAAT2 and Migraine Transformation into Chronic Daily Headache.Identification of synaptosomal proteins binding to monomeric and oligomeric α-synuclein.Rare copy number variants are an important cause of epileptic encephalopathies.Incidental medical information in whole-exome sequencing.Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.Transcriptional Regulation of the Astrocytic Excitatory Amino Acid Transporter 1 (EAAT1) via NF-κB and Yin Yang 1 (YY1).Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patientsThe role of glutamate transporters in neurodegenerative diseases and potential opportunities for intervention.RBFOX1 regulates both splicing and transcriptional networks in human neuronal development.Increased excitatory amino acid transport into murine prion protein knockout astrocytes cultured in vitro.Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.Episodic ataxia type 2.The biology of the glutamatergic system and potential role in migraine.The brain is hyperexcitable in migraine.The blood-brain barrier in migraine treatment.Guanosine and its role in neuropathologies.
P2860
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P2860
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
description
2005 nî lūn-bûn
@nan
2005 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2005年の論文
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2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
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name
Mutation in the glutamate tran ...... axia, hemiplegia, and seizures
@ast
Mutation in the glutamate tran ...... axia, hemiplegia, and seizures
@en
Mutation in the glutamate tran ...... axia, hemiplegia, and seizures
@nl
type
label
Mutation in the glutamate tran ...... axia, hemiplegia, and seizures
@ast
Mutation in the glutamate tran ...... axia, hemiplegia, and seizures
@en
Mutation in the glutamate tran ...... axia, hemiplegia, and seizures
@nl
prefLabel
Mutation in the glutamate tran ...... axia, hemiplegia, and seizures
@ast
Mutation in the glutamate tran ...... axia, hemiplegia, and seizures
@en
Mutation in the glutamate tran ...... axia, hemiplegia, and seizures
@nl
P2093
P3181
P1433
P1476
Mutation in the glutamate tran ...... axia, hemiplegia, and seizures
@en
P2093
P304
P3181
P356
10.1212/01.WNL.0000172638.58172.5A
P407
P577
2005-08-23T00:00:00Z