Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation.

Muscle & nerve - 1 Jun 2020

Horie Riho, Kubota Tomoya, Koh Jinsoo, Tanaka Rieko, Nakamura Yuichiro, Sasaki Ryogen, Ito Hidefumi, Takahashi Masanori P

Abstract excerpt

INTRODUCTION: Mutations of the voltage-gated sodium channel gene (SCN4A), which encodes Nav1.4, cause nondystrophic myotonia that occasionally is associated with severe apnea and laryngospasm. There are case reports of nondystrophic myotonia due to mutations in the C-terminal tail (CTerm) of Nav1.4, but the functional analysis is scarce. METHODS: We present two families with nondystrophic myotonia harboring a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to EF Hand Motifs

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HEK293 Cells

Share to Membrane Potentials

Share to Mutation

Share to Myotonic Disorders

Share to NAV1.4 Voltage-Gated Sodium Channel

Share to Young Adult

Source

Identifiers

PMID: 32129495
DOI: 10.1002/mus.26849

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation.PMID 32129495Read ↗

A C‐terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivationSemantic proximity Read ↗

Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective?Semantic proximity Read ↗

Diverse biophysical mechanisms in voltage-gated sodium channel Nav1.4 variants associated with myotonia.Semantic proximity Read ↗

Novel insights into the pathomechanisms of skeletal muscle channelopathies.Semantic proximity Read ↗

Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4.Semantic proximity Read ↗

Defective fast inactivation recovery of <scp>N</scp>a<sub>v</sub>1.4 in congenital myasthenic syndromeSemantic proximity Read ↗

Pathomechanisms in channelopathies of skeletal muscle and brain.Semantic proximity Read ↗

Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome.Semantic proximity Read ↗

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.Semantic proximity Read ↗

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.Semantic proximity Read ↗

New mutation of the Na channel in the severe form of potassium‐aggravated myotoniaSemantic proximity Read ↗

Sodium Channelopathies of Skeletal Muscle.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.