Associated Papers
Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.
Hammer MF
Bioscience Reports, 2025
Conifer metabolite pisiferic acid restores activity in human Kv1.2 potassium channels carrying pathogenic sequence variants.
Manville RW et al.
Iscience, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
A conifer metabolite corrects episodic ataxia type 1 by voltage sensor-mediated ligand activation of Kv1.1.
Manville RW et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
An activator of voltage-gated K+ channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1.
Servettini I et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Native American ataxia medicines rescue ataxia-linked mutant potassium channel activity via binding to the voltage sensing domain.
Manville RW et al.
Nature Communications, 2023
Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy.
Paulhus K et al.
International Journal of Molecular Sciences, 2023
Basket to Purkinje Cell Inhibitory Ephaptic Coupling Is Abolished in Episodic Ataxia Type 1.
Martin HGS et al.
Cells, 2023
Case report: A novel loss-of-function pathogenic variant in the KCNA1 cytoplasmic N-terminus causing carbamazepine-responsive type 1 episodic ataxia.
Manville RW et al.
Frontiers in Neurology, 2022
Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.
Imbrici P et al.
Biomedicines, 2021
Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature.
Lauxmann S et al.
Frontiers in Neurology, 2021
Involvement of the Peripheral Nervous System in Episodic Ataxias.
Koźmiński W et al.
Biomedicines, 2020
Conformational equilibrium shift underlies altered K+ channel gating as revealed by NMR.
Iwahashi Y et al.
Nature Communications, 2020
A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.
Zhao J et al.
International Journal of Molecular Sciences, 2020
Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.
Yuan H et al.
Molecular Genetics & Genomic Medicine, 2020
Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine.
Manville RW et al.
The Journal of Pharmacology and Experimental Therapeutics, 2020
Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.
D'Adamo MC et al.
International Journal of Molecular Sciences, 2020
Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Paulhus K et al.
International Journal of Molecular Sciences, 2020
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
Verdura E et al.
Journal of Medical Genetics, 2020
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
Rogers A et al.
American Journal of Medical Genetics. Part A, 2018
Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.
Oyrer J et al.
Pharmacological Reviews, 2018
Purkinje Cell Signaling Deficits in Animal Models of Ataxia.
Hoxha E et al.
Frontiers in Synaptic Neuroscience, 2018
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia.
Hasan S et al.
Scientific Reports, 2017
Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing.
Ferrick-Kiddie EA et al.
Scientific Reports, 2017
Action potential broadening in a presynaptic channelopathy.
Begum R et al.
Nature Communications, 2016
Conformational dynamics of shaker-type Kv1.1 ion channel in open, closed, and two mutated states.
Bhuyan R et al.
The Journal of Membrane Biology, 2015
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.
Miceli F et al.
Frontiers in Cellular Neuroscience, 2015
New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
D'Adamo MC et al.
Frontiers in Cellular Neuroscience, 2015
Voltage-gated potassium channels at the crossroads of neuronal function, ischemic tolerance, and neurodegeneration.
Shah NH et al.
Translational Stroke Research, 2014
K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.
D'Adamo MC et al.
Frontiers in Cellular Neuroscience, 2013
Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature.
Brunetti O et al.
Neurobiology of Disease, 2012
Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes.
Zhu J et al.
Archives of Biochemistry and Biophysics, 2012
Voltage-gated potassium channels and the diversity of electrical signalling.
Jan LY et al.
The Journal of Physiology, 2012
Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures.
Ishida S et al.
Brain Research, 2012
Mechanism of accelerated current decay caused by an episodic ataxia type-1-associated mutant in a potassium channel pore.
Peters CJ et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011
Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.
Imbrici P et al.
American Journal of Physiology. Cell Physiology, 2011
A new Kv1.2 channelopathy underlying cerebellar ataxia.
Xie G et al.
The Journal of Biological Chemistry, 2010
Channelopathies linked to plasma membrane phosphoinositides.
Logothetis DE et al.
Pflugers Archiv : European Journal of Physiology, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Mechanisms of human inherited epilepsies.
Reid CA et al.
Progress in Neurobiology, 2009
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.
Imbrici P et al.
Neuroscience, 2008
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
Jen JC et al.
Brain : a Journal of Neurology, 2007
Episodic ataxia type 1: a neuronal potassium channelopathy.
Rajakulendran S et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007
Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvbeta1.1.
Imbrici P et al.
American Journal of Physiology. Cell Physiology, 2007
Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.
Imbrici P et al.
The European Journal of Neuroscience, 2006
Kv1.1 deletion augments the afferent hypoxic chemosensory pathway and respiration.
Kline DD et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005
Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels.
Imbrici P et al.
Pflugers Archiv : European Journal of Physiology, 2003