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Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening

Proceedings of the National Academy of Sciences - PNAS, 2018-04, Vol.115 (15), p.E3559-E3568

2018

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Infant and adult SCA13 mutations differentially affect Purkinje cell excitability, maturation, and viability in vivo

eLife, 2020-07, Vol.9

2020

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Altered Kv3.3 channel gating in early‐onset spinocerebellar ataxia type 13

The Journal of physiology, 2012-04, Vol.590 (7), p.1599-1614

2012

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Neural circuit activity in freely behaving zebrafish (Danio rerio)

Journal of experimental biology, 2011-03, Vol.214 (Pt 6), p.1028-1038

2011

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Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner

Cellular and molecular life sciences : CMLS, 2015-09, Vol.72 (17), p.3387-3399

2015

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Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)

PloS one, 2011-03, Vol.6 (3), p.e17811

2011

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Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients

Human mutation, 2022-09, Vol.43 (9), p.1286-1298

2022

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Rapid development of Purkinje cell excitability, functional cerebellar circuit, and afferent sensory input to cerebellum in zebrafish

Frontiers in neural circuits, 2014-12, Vol.8, p.147-147

2014

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Atomic Proximity between S4 Segment and Pore Domain in Shaker Potassium Channels

Neuron (Cambridge, Mass.), 2003-07, Vol.39 (3), p.467-481

2003

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Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development

Disease models & mechanisms, 2012-11, Vol.5 (6), p.921-929

2012

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Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation

Human molecular genetics, 2014-07, Vol.23 (13), p.3481-3489

2014

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Structural Basis of Two-Stage Voltage-Dependent Activation in K+Channels

Proceedings of the National Academy of Sciences - PNAS, 2003-03, Vol.100 (5), p.2935-2940

2003

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Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels

BMC neuroscience, 2010-08, Vol.11 (1), p.99-99, Article 99

2010

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In Vivo Analysis of Potassium Channelopathies: Loose Patch Recording of Purkinje Cell Firing in Living, Awake Zebrafish

Methods in molecular biology (Clifton, N.J.), 2018, Vol.1684, p.237

2018

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Distance Measurements Reveal a Common Topology of Prokaryotic Voltage-Gated Ion Channels in the Lipid Bilayer

Proceedings of the National Academy of Sciences - PNAS, 2006-10, Vol.103 (43), p.15865-15870

2006

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Optical detection of rate-determining ion-modulated conformational changes of the ether-à-go-go K+ channel voltage sensor

Proceedings of the National Academy of Sciences - PNAS, 2005-12, Vol.102 (51), p.18718-18723

2005

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Spinocerebellar ataxia type 13 mutant potassium channel alters neuronal excitability and causes locomotor deficits in zebrafish

The Journal of neuroscience, 2011-05, Vol.31 (18), p.6831-6841

2011

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Voltage-dependent structural interactions in the Shaker K(+) channel

The Journal of general physiology, 2000-02, Vol.115 (2), p.123-138

2000

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Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

Nature genetics, 2006-04, Vol.38 (4), p.447-451

2006

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KCNC3: phenotype, mutations, channel biophysics--a study of 260 familial ataxia patients

Human mutation, 2010-02, Vol.31 (2), p.191-196

2010

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R1 in the Shaker S4 occupies the gating charge transfer center in the resting state

The Journal of general physiology, 2011-08, Vol.138 (2), p.155-163

2011

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Voltage-Sensing Residues in the S2 and S4 Segments of the Shaker K + Channel

Neuron (Cambridge, Mass.), 1996-06, Vol.16 (6), p.1159-1167

1996

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Mg2+ Modulates Voltage-Dependent Activation in Ether-à-Go-Go Potassium Channels by Binding between Transmembrane Segments S2 and S3

The Journal of general physiology, 2000-11, Vol.116 (5), p.663-678

2000

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Molecular Basis of Gating Charge Immobilization in Shaker Potassium Channels

Science (American Association for the Advancement of Science), 1991-11, Vol.254 (5032), p.679-683

1991

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Transfer of ion binding site from ether-a-go-go to Shaker: Mg2+ binds to resting state to modulate channel opening

The Journal of general physiology, 2010-05, Vol.135 (5), p.415-431

2010

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Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening

Infant and adult SCA13 mutations differentially affect Purkinje cell excitability, maturation, and viability in vivo

Altered Kv3.3 channel gating in early‐onset spinocerebellar ataxia type 13

Neural circuit activity in freely behaving zebrafish (Danio rerio)

Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner

Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)

Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients

Rapid development of Purkinje cell excitability, functional cerebellar circuit, and afferent sensory input to cerebellum in zebrafish

Atomic Proximity between S4 Segment and Pore Domain in Shaker Potassium Channels

Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation

Structural Basis of Two-Stage Voltage-Dependent Activation in K+Channels

Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels

In Vivo Analysis of Potassium Channelopathies: Loose Patch Recording of Purkinje Cell Firing in Living, Awake Zebrafish

Distance Measurements Reveal a Common Topology of Prokaryotic Voltage-Gated Ion Channels in the Lipid Bilayer

Optical detection of rate-determining ion-modulated conformational changes of the ether-à-go-go K+ channel voltage sensor

Spinocerebellar ataxia type 13 mutant potassium channel alters neuronal excitability and causes locomotor deficits in zebrafish

Voltage-dependent structural interactions in the Shaker K(+) channel

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

KCNC3: phenotype, mutations, channel biophysics--a study of 260 familial ataxia patients

R1 in the Shaker S4 occupies the gating charge transfer center in the resting state

Voltage-Sensing Residues in the S2 and S4 Segments of the Shaker K + Channel

Mg2+ Modulates Voltage-Dependent Activation in Ether-à-Go-Go Potassium Channels by Binding between Transmembrane Segments S2 and S3

Molecular Basis of Gating Charge Immobilization in Shaker Potassium Channels

Transfer of ion binding site from ether-a-go-go to Shaker: Mg2+ binds to resting state to modulate channel opening

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