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Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches

International journal of molecular sciences, 2020-04, Vol.21 (8), p.2935

2020

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Structure, Gating and Basic Functions of the Ca2+-activated K Channel of Intermediate Conductance

Current neuropharmacology, 2018-01, Vol.16 (5), p.608-617

2018

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Dexamethasone in Glioblastoma Multiforme Therapy: Mechanisms and Controversies

Frontiers in molecular neuroscience, 2019-03, Vol.12, p.65-65

2019

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Altered functional properties of a missense variant in the TRESK K+ channel (KCNK18) associated with migraine and intellectual disability

Pflügers Archiv, 2020-07, Vol.472 (7), p.923-930

2020

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Locus Coeruleus Neurons' Firing Pattern Is Regulated by ERG Voltage-Gated K + Channels

International journal of molecular sciences, 2022-12, Vol.23 (23), p.15334

2022

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Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

International journal of molecular sciences, 2020-05, Vol.21 (11), p.3810

2020

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Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1

Neurobiology of disease, 2011-07, Vol.43 (1), p.239-247

2011

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KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity

International journal of molecular sciences, 2021-06, Vol.22 (11), p.6064

2021

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Kcnj16 (Kir5.1) Gene Ablation Causes Subfertility and Increases the Prevalence of Morphologically Abnormal Spermatozoa

International journal of molecular sciences, 2021-06, Vol.22 (11), p.5972

2021

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Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype

Human molecular genetics, 2014-09, Vol.23 (18), p.4875-4886

2014

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Electromechanical coupling of the Kv1.1 voltage-gated K+ channel is fine-tuned by the simplest amino acid residue in the S4-S5 linker

Pflügers Archiv, 2020-07, Vol.472 (7), p.899-909

2020

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Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder

Frontiers in cellular neuroscience, 2015-03, Vol.9, p.34-34

2015

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A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

Journal of human genetics, 2013-09, Vol.58 (9), p.581-587

2013

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Commentary: A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

Frontiers in cellular neuroscience, 2018-06, Vol.12, p.174-174

2018

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Redox sensitivity of tyrosine hydroxylase activity and expression in dopaminergic dysfunction

CNS & neurological disorders drug targets, 2012-06, Vol.11 (4), p.419

2012

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A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release

PloS one, 2016-05, Vol.11 (5), p.e0155516-e0155516

2016

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The CaMKII/MLC1 Axis Confers Ca2+-Dependence to Volume-Regulated Anion Channels (VRAC) in Astrocytes

Cells (Basel, Switzerland), 2022-08, Vol.11 (17), p.2656

2022

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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

American Journal of Physiology: Cell Physiology, 2011-06, Vol.300 (6), p.C1314-C1322

2011

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Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature

Neurobiology of disease, 2012-09, Vol.47 (3), p.310-321

2012

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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

The European journal of neuroscience, 2006-12, Vol.24 (11), p.3073-3083

2006

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Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I

Frontiers in neurology, 2018-07, Vol.9, p.587

2018

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ERG voltage-gated K+ channels regulate excitability and discharge dynamics of the medial vestibular nucleus neurones

The Journal of physiology, 2008-10, Vol.586 (20), p.4877-4890

2008

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Differential pH sensitivity of Kir4.1 and Kir4.2 potassium channels and their modulation by heteropolymerisation with Kir5.1

The Journal of physiology, 2001-04, Vol.532 (2), p.359-367

2001

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Corrigendum to “Ion Channels Involvement in Neurodevelopmental Disorders” [Neuroscience 440C (2020) 337–359]

Neuroscience, 2020-09, Vol.443, p.233-233

2020

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Ion Channels Involvement in Neurodevelopmental Disorders

Neuroscience, 2020-08, Vol.440, p.337-359

2020

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Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches

Structure, Gating and Basic Functions of the Ca2+-activated K Channel of Intermediate Conductance

Dexamethasone in Glioblastoma Multiforme Therapy: Mechanisms and Controversies

Altered functional properties of a missense variant in the TRESK K+ channel (KCNK18) associated with migraine and intellectual disability

Locus Coeruleus Neurons' Firing Pattern Is Regulated by ERG Voltage-Gated K + Channels

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1

KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity

Kcnj16 (Kir5.1) Gene Ablation Causes Subfertility and Increases the Prevalence of Morphologically Abnormal Spermatozoa

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype

Electromechanical coupling of the Kv1.1 voltage-gated K+ channel is fine-tuned by the simplest amino acid residue in the S4-S5 linker

Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

Commentary: A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

Redox sensitivity of tyrosine hydroxylase activity and expression in dopaminergic dysfunction

A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release

The CaMKII/MLC1 Axis Confers Ca2+-Dependence to Volume-Regulated Anion Channels (VRAC) in Astrocytes

Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain

Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature

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

Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I

ERG voltage-gated K+ channels regulate excitability and discharge dynamics of the medial vestibular nucleus neurones

Differential pH sensitivity of Kir4.1 and Kir4.2 potassium channels and their modulation by heteropolymerisation with Kir5.1

Corrigendum to “Ion Channels Involvement in Neurodevelopmental Disorders” [Neuroscience 440C (2020) 337–359]

Ion Channels Involvement in Neurodevelopmental Disorders

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