Localization of Two Potassium Channel β Subunit Genes, KCNA1B and KCNA2B (original) (raw)
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
Patrizia Avoni
Annals of Neurology, 2000
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A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
Alexander Spauschus
Brain, 1999
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Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function
Maria Cristina D'Adamo
FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 1999
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Molecular cloning, characterization, and genomic localization of a human potassium channel gene
Gregory Landes
Genomics, 1992
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Genomic organization, nucleotide sequence, and cellular distribution of a Shaw-related potassium channel gene, Kv3.3, and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1
L. Salkoff
Genomics, 1992
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Variable K+ channel subunit dysfunction in inherited mutations of KCNA1
Alexander Spauschus
The Journal of Physiology, 2002
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Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvβ1.1 and Kv1.4-1.1/Kvβ1.2
Maria Cristina D'Adamo
European Journal of Neuroscience, 2006
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Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies
Germaine Pierre
European Journal of Human Genetics
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Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties
bing-wen soong
International Journal of Molecular Sciences
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A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel
Georges Anthony Haddad
International Journal of Molecular Sciences, 2020
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Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia
Haijun Chen, Leonard Kaczmarek
Neurogenetics, 2007
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Biophysical characteristics of a new mutation on the KCNQ1 potassium channel (L251P) causing long QT syndrome
Mohamed Chahine
Canadian Journal of Physiology and Pharmacology, 2003
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Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain
Maria Cristina D'Adamo
AJP: Cell Physiology, 2011
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Neuronal KCNQ potassium channels:physislogy and role in disease
Thomas Jentsch
2000
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Shaw-like rat brain potassium channel cDNA's with divergent 3′ ends
Jacinta Williams
FEBS Letters, 1991
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The genomic basis of KV3.4 potassium channel mRNA diversity in mice
Harald H Jockusch
Gene, 2001
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KCNQ2 and KCNQ3 Potassium Channel Subunits: Molecular Correlates of the M-Channel
R. Wymore
Science
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A Gene for Autosomal Dominant Paroxysmal Choreoathetosis/Spasticity (CSE) Maps to the Vicinity of a Potassium Channel Gene Cluster on Chromosome 1p, Probably within 2 cM between D1S443 and D1S197
Otto Witte
Genomics, 1996
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Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1)
Stephan Grissmer
European Journal of Neuroscience, 1999
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Initial isolation and analysis of the human Kv1.7 (KCNA7) gene, a member of the voltage-gated potassium channel gene family
Sergei Kvasha
Gene, 2001
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A Novel Mutation (T65P) in the PAS Domain of the Human Potassium Channel HERG Results in the Long QT Syndrome by Trafficking Deficiency
Jeroen Aerssens
Journal of Biological Chemistry, 2002
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The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3
Michel Lazdunski
FEBS Letters, 1998
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The Human Inward Rectifying K+Channel Kir 2.2 (KCNJ12) Gene: Gene Structure, Assignment to Chromosome 17p11.1, and Identification of a Simple Tandem Repeat Polymorphism
Michel Lazdunski
Genomics, 1997
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Kvβ1 Subunit Binding Specific for Shaker-Related Potassium Channel α Subunits
S. Sewing
1996
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Influence of rs1800172 common gene variation on the structure and function of potassium voltage-gated channel subfamily Q member 1
Central Asian Journal of Medical and Pharmaceutical Sciences Innovation (CAJMPSI)
Central Asian Scientific Press (CAS-Press), 2022
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Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties
Zaid Afawi
Annals of neurology, 2017
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Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel
Maria Cristina D'Adamo
Biomedicines
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