Associated Papers
Migraine in monogenic disorders: Shedding light on new therapeutic targets.
Mascarella D et al.
Cephalalgia : an International Journal of Headache, 2025
Genotype-phenotype relations for episodic ataxia genes: MDSGene systematic review.
Olszewska DA et al.
European Journal of Neurology, 2023
Ataxia-linked SLC1A3 mutations alter EAAT1 chloride channel activity and glial regulation of CNS function.
Wu Q et al.
The Journal of Clinical Investigation, 2022
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
Cellular Physiology and Pathophysiology of EAAT Anion Channels.
Kovermann P et al.
Frontiers in Cellular Neuroscience, 2021
Functional consequences of SLC1A3 mutations associated with episodic ataxia 6.
Chivukula AS et al.
Human Mutation, 2020
The 4b-4c loop of excitatory amino acid transporter 1 containing four critical residues essential for substrate transport.
He S et al.
Journal of Biomolecular Structure & Dynamics, 2020
SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes.
Paucar M et al.
Neurology. Genetics, 2020
Excitatory Amino Acid Transporters in Physiology and Disorders of the Central Nervous System.
Malik AR et al.
International Journal of Molecular Sciences, 2019
A novel mutation in SLC1A3 causes episodic ataxia.
Iwama K et al.
Journal of Human Genetics, 2018
Impaired K+ binding to glial glutamate transporter EAAT1 in migraine.
Kovermann P et al.
Scientific Reports, 2017
Late-onset episodic ataxia associated with SLC1A3 mutation.
Choi KD et al.
Journal of Human Genetics, 2017
The transmembrane transporter domain of glutamate transporters is a process tip localizer.
Hayashi MK et al.
Scientific Reports, 2015
Computational neurobiology is a useful tool in translational neurology: the example of ataxia.
Brown SA et al.
Frontiers in Neuroscience, 2015
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.
Pretto DI et al.
Neurobiology of Aging, 2014
The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics.
Hersheson J et al.
Human Mutation, 2012
Genetics of recurrent vertigo and vestibular disorders.
Gazquez I et al.
Current Genomics, 2011
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.
Anttila V et al.
Nature Genetics, 2010
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
de Vries B et al.
Archives of Neurology, 2009
A reentrant loop domain in the glutamate carrier EAAT1 participates in substrate binding and translocation.
Seal RP et al.
Neuron, 1998