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

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

Neurology - 4 Sept 2012

Lossin Christoph, Nam Tai-Seung, Shahangian Shahab, Rogawski Michael A, Choi Seok-Yong, Kim Myeong-Kyu, Sunwoo Il-Nam

Abstract excerpt

OBJECTIVE: To electrophysiologically characterize the Na(v)1.4 mutant N440K found in a Korean family with a syndrome combining symptoms of paramyotonia congenita, hyperkalemic periodic paralysis, and potassium-aggravated myotonia. METHODS: We characterized transiently expressed wild-type and mutant Na(v)1.4 using whole-cell voltage-clamp analysis. RESULTS: N440K produced a significant depolarizing shift in the...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Electromyography

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

Share to Ion Channel Gating

Share to Membrane Potentials

Share to Muscle, Skeletal

Share to Mutation

Share to Myotonic Disorders

Share to NAV1.4 Voltage-Gated Sodium Channel

Source

Identifiers

PMID: 22914841
DOI: 10.1212/WNL.0b013e3182684683

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

Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome.PMID 22914841Read ↗

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

Sodium Channelopathies of Skeletal Muscle.Semantic proximity Read ↗

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

Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia.Semantic proximity Read ↗

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

The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.Semantic proximity Read ↗

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

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

NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers.Semantic proximity Read ↗

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

Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia.Semantic 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 ↗

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