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

Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II.

Brain : a journal of neurology - 1 Apr 2002

Kuzmenkin Alexey, Muncan Vanesa, Jurkat-Rott Karin, Hang Chao, Lerche Holger, Lehmann-Horn Frank, Mitrovic Nenad

Abstract excerpt

Hypokalaemic periodic paralysis (hypoPP) is a dominantly inherited muscle disorder characterized by episodes of flaccid weakness. Previous genetic studies revealed mutations in the voltage-gated calcium channel alpha1-subunit (CACNA1S gene) in families with hypoPP (type I). Electrophysiological studies on these mutants in different expression systems could not explain the pathophysiology of the disease. In...

Read the complete abstract on PubMed

Topics

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

Share to Arginine
Share to Glycine

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

Share to Histidine

Share to Hypokalemic Periodic Paralysis

Share to Membrane Potentials

Share to NAV1.4 Voltage-Gated Sodium Channel

Share to Potassium

Share to Sodium Channels

Source

Identifiers

PMID: 11912116
DOI: 10.1093/brain/awf071

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

Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II.PMID 11912116Read ↗

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

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.Semantic proximity Read ↗

Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel.Semantic proximity Read ↗

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

A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH Sensitivity in Skeletal Muscle Voltage-gated Sodium ChannelsSemantic proximity Read ↗

Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.Semantic proximity Read ↗

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

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

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.Semantic proximity Read ↗

Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.Semantic proximity Read ↗

Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.Semantic proximity Read ↗

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