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

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

Brain & development - 1 Apr 2023

Segawa Kazuki, Nishiyama Masahiro, Mori Itsuki, Kubota Tomoya, Takahashi Masanori P

Abstract excerpt

BACKGROUND: Hyperkalemic periodic paralysis (HyperPP) is an autosomal dominantly inherited disease characterized by episodic paralytic attacks with hyperkalemia, and is caused by mutations of the SCN4A gene encoding the skeletal muscle type voltage-gated sodium channel Nav1.4. The pathological mechanism of HyperPP was suggested to be associated with gain-of-function changes for Nav1.4 gating, some of which are...

Read the complete abstract on PubMed

Topics

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

Share to HEK293 Cells
Share to Muscle, Skeletal
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to NAV1.4 Voltage-Gated Sodium Channel

Source

Identifiers

PMID: 36628799
DOI: 10.1016/j.braindev.2022.12.003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4.PMID 36628799Read ↗

Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.Semantic proximity Read ↗

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

Hypokalemic periodic paralysis: novel perspectives from genetic mutations to clinical management.Semantic proximity Read ↗

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

Activation and Inactivation of the Voltage-Gated Sodium Channel: Role of Segment S5 Revealed by a Novel Hyperkalaemic Periodic Paralysis MutationSemantic proximity Read ↗

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

Analysis of a rare pathogenic variant of the SCN4A gene (c.4307T>C, L1436P): from clinic to patch-clampSemantic proximity Read ↗

Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis.Semantic proximity Read ↗

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.Semantic proximity Read ↗

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

Myasthenic syndrome caused by mutation of the SCN4A sodium channel.Semantic proximity Read ↗

A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore.Semantic proximity Read ↗

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