4.5 Article

Critical Role of E1623 Residue in S3-S4 Loop of Nav1.1 Channel and Correlation Between Nature of Substitution and Functional Alteration

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Multidisciplinary Sciences

Comparative structural analysis of human Nav1.1 and Nav1.5 reveals mutational hotspots for sodium channelopathies

Xiaojing Pan et al.

Summary: The high-resolution structures of human Na(v)1.1 and Na(v)1.5 channels associated with epilepsy and cardiac disorders were reported. Comparative structural analysis revealed common clusters of disease mutations in both channels. These mutations may affect the structural integrity and electromechanical coupling of the channels.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)

Article Clinical Neurology

De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS plus )

Alex Jaimes et al.

EPILEPTIC DISORDERS (2020)

Article Neurosciences

Novel and de novo mutations in pediatric refractory epilepsy

Jing Liu et al.

MOLECULAR BRAIN (2018)

Review Biochemistry & Molecular Biology

The chemical basis for electrical signaling

William A. Catterall et al.

NATURE CHEMICAL BIOLOGY (2017)

Review Clinical Neurology

From genotype to phenotype in Dravet disease

Svetlana Gataullina et al.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2017)

Review Biochemistry & Molecular Biology

Gating Mechanisms of Voltage-Gated Proton Channels

Yasushi Okamura et al.

ANNUAL REVIEW OF BIOCHEMISTRY, VOL 84 (2015)

Article Multidisciplinary Sciences

Moving gating charges through the gating pore in a Kv channel voltage sensor

Jerome J. Lacroix et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)

Article Physiology

Thermodynamics of electromechanical coupling in voltage-gated ion channels

Sandipan Chowdhury et al.

JOURNAL OF GENERAL PHYSIOLOGY (2012)

Article Multidisciplinary Sciences

Structural basis for gating charge movement in the voltage sensor of a sodium channel

Vladimir Yarov-Yarovoy et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)

Article Biochemistry & Molecular Biology

Contributions of counter-charge in a potassium channel voltage-sensor domain

Stephan A. Pless et al.

NATURE CHEMICAL BIOLOGY (2011)

Article Multidisciplinary Sciences

Mapping the receptor site for α-scorpion toxins on a Na+ channel voltage sensor

Jinti Wang et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)

Article Multidisciplinary Sciences

Crucial role of a shared extracellular loop in apamin sensitivity and maintenance of pore shape of small-conductance calcium-activated potassium (SK) channels

Kate L. Weatherall et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)

Article Clinical Neurology

Clinical spectrum of SCN1A mutations

Antonio Gambardella et al.

EPILEPSIA (2009)

Article Multidisciplinary Sciences

Deconstructing voltage sensor function and pharmacology in sodium channels

Frank Bosmans et al.

NATURE (2008)

Article Clinical Neurology

The spectrum of SCNIA-related infantile epileptic encephalopathies

Louise A. Harkin et al.

Review Medicine, Research & Experimental

Sodium channel mutations in epilepsy and other neurological disorders

MH Meisler et al.

JOURNAL OF CLINICAL INVESTIGATION (2005)

Article Genetics & Heredity

SCN1A mutations and epilepsy

JC Mulley et al.

HUMAN MUTATION (2005)