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Loss-of-Function of the Voltage-Gated Sodium Channel NaV1.5 (Channelopathies) in Patients With Irritable Bowel Syndrome

Gastroenterology (New York, N.Y. 1943), 2014-06, Vol.146 (7), p.1659-1668

2014

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Diseases caused by mutations in ORAI1 and STIM1

Annals of the New York Academy of Sciences, 2015-11, Vol.1356 (1), p.45-79

2015

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Channelopathies in fragile X syndrome

Nature reviews. Neuroscience, 2021-05, Vol.22 (5), p.275-289

2021

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Impact of Genetics on the Clinical Management of Channelopathies

Journal of the American College of Cardiology, 2013-07, Vol.62 (3), p.169-180

2013

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Potassium channelopathies associated with epilepsy-related syndromes and directions for therapeutic intervention

Biochemical pharmacology, 2023-02, Vol.208, p.115413-115413, Article 115413

2023

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TRPV4: Molecular Conductor of a Diverse Orchestra

Physiological reviews, 2016-07, Vol.96 (3), p.911-973

2016

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Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 10: The Cardiac Channelopathies: A Scientific Statement From the American Heart Association and American College of Cardiology

Journal of the American College of Cardiology, 2015-12, Vol.66 (21), p.2424-2428

2015

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Ion Channel Disorders and Sudden Cardiac Death

International journal of molecular sciences, 2018-02, Vol.19 (3), p.692

2018

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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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A Review of Current and Prospective Treatments for Channelopathies, with a Focus on Gene and Protein Therapy

Current pharmaceutical design, 2023-01, Vol.29 (17), p.1341-1360

2023

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Sodium channelopathies in neurodevelopmental disorders

Nature reviews. Neuroscience, 2021-03, Vol.22 (3), p.152-166

2021

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A pannexin 1 channelopathy causes human oocyte death

Science translational medicine, 2019-03, Vol.11 (485)

2019

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Care Recommendations for the Investigation and Management of Children With Skeletal Muscle Channelopathies

Pediatric neurology, 2023-08, Vol.145, p.102-111

2023

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Painful and painless channelopathies

Lancet neurology, 2014-06, Vol.13 (6), p.587-599

2014

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Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights

Journal of neurology, 2024-06, Vol.271 (6), p.3063-3094

2024

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Neuromyelitis optica and the evolving spectrum of autoimmune aquaporin-4 channelopathies: a decade later

Annals of the New York Academy of Sciences, 2016-02, Vol.1366 (1), p.20-39

2016

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A retrospective study of accuracy and usefulness of electrophysiological exercise tests

Journal of neurology, 2024-04, Vol.271 (4), p.1802-1812

2024

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The S4–S5-linker – gearbox of TRP channel gating

Cell calcium (Edinburgh), 2017-11, Vol.67, p.156-165

2017

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Genetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/unknown significance issue

Heart rhythm, 2015-11, Vol.12 (11), p.2325-2331

Ackerman, Michael J., MD, PhD

2015

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Sodium channelopathies of skeletal muscle and brain

Physiological reviews, 2021-10, Vol.101 (4), p.1633-1689

2021

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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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A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

Brain (London, England : 1878), 2017-06, Vol.140 (6), p.1579-1594

2017

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NaV1.1 channels and epilepsy

The Journal of physiology, 2010-06, Vol.588 (11), p.1849-1859

2010

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Towards Precision Medicine With Human iPSCs for Cardiac Channelopathies

Circulation research, 2019-08, Vol.125 (6), p.653-658

2019

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Loss-of-Function of the Voltage-Gated Sodium Channel NaV1.5 (Channelopathies) in Patients With Irritable Bowel Syndrome

Diseases caused by mutations in ORAI1 and STIM1

Channelopathies in fragile X syndrome

Impact of Genetics on the Clinical Management of Channelopathies

Potassium channelopathies associated with epilepsy-related syndromes and directions for therapeutic intervention

TRPV4: Molecular Conductor of a Diverse Orchestra

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)

Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 10: The Cardiac Channelopathies: A Scientific Statement From the American Heart Association and American College of Cardiology

Ion Channel Disorders and Sudden Cardiac Death

Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches

A Review of Current and Prospective Treatments for Channelopathies, with a Focus on Gene and Protein Therapy

Sodium channelopathies in neurodevelopmental disorders

A pannexin 1 channelopathy causes human oocyte death

Care Recommendations for the Investigation and Management of Children With Skeletal Muscle Channelopathies

Painful and painless channelopathies

Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights

Neuromyelitis optica and the evolving spectrum of autoimmune aquaporin-4 channelopathies: a decade later

A retrospective study of accuracy and usefulness of electrophysiological exercise tests

The S4–S5-linker – gearbox of TRP channel gating

Genetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/unknown significance issue

Sodium channelopathies of skeletal muscle and brain

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

NaV1.1 channels and epilepsy

Towards Precision Medicine With Human iPSCs for Cardiac Channelopathies

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