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

Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics - 1 Apr 2007

Jurkat-Rott Karin, Lehmann-Horn Frank

Abstract excerpt

Familial hyperkalemic periodic paralysis (PP) is a dominantly inherited muscle disease characterized by attacks of flaccid weakness and intermittent myotonia. Some patients experience muscle stiffness that is aggravated by cold and exercise, bordering on the diagnosis of paramyotonia congenita. Hyperkalemic PP and paramyotonia congenita are allelic diseases caused by gain-of-function mutations of the skeletal...

Read the complete abstract on PubMed

Topics

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

Share to Genotype
Share to Muscle Proteins
Share to Muscle, Skeletal

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

Share to Mutation

Share to NAV1.4 Voltage-Gated Sodium Channel

Share to Phenotype

Share to Sodium Channels

Source

Identifiers

PMID: 17395131
DOI: 10.1016/j.nurt.2007.02.001

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

Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.PMID 17395131Read ↗

Muscle channelopathies.Semantic proximity Read ↗

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

The primary periodic paralyses: diagnosis, pathogenesis and treatment.Semantic proximity Read ↗

Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder.Semantic proximity Read ↗

Paramyotonia congenita with persistent distal and facial muscle weakness: A case report with literature reviewSemantic proximity Read ↗

The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis.Semantic proximity Read ↗

A new clinical entity in T704M mutation in periodic paralysis.Semantic proximity Read ↗

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.Semantic proximity Read ↗

Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype.Semantic proximity Read ↗

Diagnostics in skeletal muscle channelopathies.Semantic proximity Read ↗

Periodic paralysis, myotonia congenita and sarcolemmal ion channels: a success of the candidate gene approach.Semantic proximity Read ↗

Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?Semantic proximity Read ↗

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