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Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity

International journal of molecular sciences, 2020-04, Vol.21 (8), p.2802

2020

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On-demand cell-autonomous gene therapy for brain circuit disorders

Science (American Association for the Advancement of Science), 2022-11, Vol.378 (6619), p.523-532

2022

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De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants

American journal of medical genetics. Part A, 2018-08, Vol.176 (8), p.1748-1752

2018

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kcna1a mutant zebrafish model episodic ataxia type 1 (EA1) with epilepsy and show response to first‐line therapy carbamazepine

Epilepsia (Copenhagen), 2023-08, Vol.64 (8), p.2186-2199

2023

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Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy

International journal of molecular sciences, 2023-05, Vol.24 (10), p.8826

2023

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Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia

International journal of molecular sciences, 2022-08, Vol.23 (15), p.8079

2022

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Respiratory dysfunction progresses with age in Kcna1‐null mice, a model of sudden unexpected death in epilepsy

Epilepsia (Copenhagen), 2018-02, Vol.59 (2), p.345-357

2018

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Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia

Movement disorders, 2016-11, Vol.31 (11), p.1743-1748

2016

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

Scientific reports, 2017-07, Vol.7 (1), p.4583-13, Article 4583

2017

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Encephalopathy related to status epilepticus during sleep due to a de novo KCNA1 variant in the Kv‐specific Pro‐Val‐Pro motif: phenotypic description and remarkable electroclinical response to ACTH

Epileptic disorders, 2020-12, Vol.22 (6), p.802-806

2020

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Genetic ablation or pharmacological inhibition of Kv1.1 potassium channel subunits impairs atrial repolarization in mice

American Journal of Physiology: Cell Physiology, 2019-02, Vol.316 (2), p.C154-C161

2019

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A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel

International journal of molecular sciences, 2020-10, Vol.21 (20), p.7602

2020

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Genesis of anxiety, depression, and ongoing abdominal discomfort in ulcerative colitis-like colon inflammation

American journal of physiology. Regulatory, integrative and comparative physiology, 2015-01, Vol.308 (1), p.R18-R27

2015

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Spontaneous seizures in Kcna1‐null mice lacking voltage‐gated Kv1.1 channels activate Fos expression in select limbic circuits

Journal of neurochemistry, 2015-10, Vol.135 (1), p.157-164

2015

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Sound Localization in Preweanling Mice Was More Severely Affected by Deleting the Kcna1 Gene Compared to Deleting Kcna2, and a Curious Inverted-U Course of Development That Appeared to Exceed Adult Performance Was Observed in All Groups

Journal of the Association for Research in Otolaryngology, 2019-12, Vol.20 (6), p.565-577

2019

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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

Biomedicines, 2021-01, Vol.9 (1), p.75

2021

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Basket to Purkinje Cell Inhibitory Ephaptic Coupling Is Abolished in Episodic Ataxia Type 1

Cells (Basel, Switzerland), 2023-05, Vol.12 (10), p.1382

2023

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Kv1.1 potassium channel subunit deficiency alters ventricular arrhythmia susceptibility, contractility, and repolarization

Physiological reports, 2021-01, Vol.9 (1), p.e14702-n/a

2021

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The Impact of Potassium Channel Gene Polymorphisms on Antiepileptic Drug Responsiveness in Arab Patients with Epilepsy

Journal of personalized medicine, 2018-11, Vol.8 (4), p.37

2018

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Is Epilepsy a Disease of Synaptic Transmission?

Epilepsy currents, 2008-09, Vol.8 (5), p.139-141

Kapur, Jaideep

2008

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Altered circadian rhythms and oscillation of clock genes and sirtuin 1 in a model of sudden unexpected death in epilepsy

Epilepsia (Copenhagen), 2018-08, Vol.59 (8), p.1527-1539

2018

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Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

Journal of medical genetics, 2020-02, Vol.57 (2), p.132-137

2020

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Distinctive role of KV1.1 subunit in the biology and functions of low threshold K(+) channels with implications for neurological disease

Pharmacology & therapeutics (Oxford), 2016-03, Vol.159, p.93-101

2016

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KCNA1 promotes the growth and invasion of glioblastoma cells through ferroptosis inhibition via upregulating SLC7A11

Cancer cell international, 2024-01, Vol.24 (1), p.7-7, Article 7

2024

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New insights into the pathogenesis and therapeutics of episodic ataxia type 1

Frontiers in cellular neuroscience, 2015-08, Vol.9, p.317-317

2015

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Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity

On-demand cell-autonomous gene therapy for brain circuit disorders

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants

kcna1a mutant zebrafish model episodic ataxia type 1 (EA1) with epilepsy and show response to first‐line therapy carbamazepine

Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy

Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia

Respiratory dysfunction progresses with age in Kcna1‐null mice, a model of sudden unexpected death in epilepsy

Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia

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

Encephalopathy related to status epilepticus during sleep due to a de novo KCNA1 variant in the Kv‐specific Pro‐Val‐Pro motif: phenotypic description and remarkable electroclinical response to ACTH

Genetic ablation or pharmacological inhibition of Kv1.1 potassium channel subunits impairs atrial repolarization in mice

A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel

Genesis of anxiety, depression, and ongoing abdominal discomfort in ulcerative colitis-like colon inflammation

Spontaneous seizures in Kcna1‐null mice lacking voltage‐gated Kv1.1 channels activate Fos expression in select limbic circuits

Sound Localization in Preweanling Mice Was More Severely Affected by Deleting the Kcna1 Gene Compared to Deleting Kcna2, and a Curious Inverted-U Course of Development That Appeared to Exceed Adult Performance Was Observed in All Groups

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel

Basket to Purkinje Cell Inhibitory Ephaptic Coupling Is Abolished in Episodic Ataxia Type 1

Kv1.1 potassium channel subunit deficiency alters ventricular arrhythmia susceptibility, contractility, and repolarization

The Impact of Potassium Channel Gene Polymorphisms on Antiepileptic Drug Responsiveness in Arab Patients with Epilepsy

Is Epilepsy a Disease of Synaptic Transmission?

Altered circadian rhythms and oscillation of clock genes and sirtuin 1 in a model of sudden unexpected death in epilepsy

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

Distinctive role of KV1.1 subunit in the biology and functions of low threshold K(+) channels with implications for neurological disease

KCNA1 promotes the growth and invasion of glioblastoma cells through ferroptosis inhibition via upregulating SLC7A11

New insights into the pathogenesis and therapeutics of episodic ataxia type 1

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