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

Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2010

Kil Tae-Hwan, Kim June-Bum

Abstract excerpt

Hypokalemic periodic paralysis (HOKPP) is a rare disorder characterized by episodic muscle weakness with hypokalemia. Mutations in the CACNA1S gene, which encodes the alpha 1-subunit of the skeletal muscle L-type voltage-dependent calcium channel, have been reported to be mainly responsible for HOKPP. The paralytic attacks generally spare the respiratory muscles and the heart. Here, we report the case of a...

Read the complete abstract on PubMed

Topics

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

Share to Amiloride
Share to Calcium Channels

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

Share to Calcium Channels, L-Type

Share to Cold Temperature

Share to Glycine

Share to Hypokalemic Periodic Paralysis

Share to Potassium

Share to Respiratory Insufficiency

Source

Identifiers

PMID: 19822448
DOI: 10.1016/j.ejpn.2009.08.004

Variants

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

Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis.PMID 19822448Read ↗

A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review.Semantic proximity Read ↗

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.Semantic proximity Read ↗

Novel CACNA1S mutation in hypokalaemic periodic paralysis.Semantic proximity Read ↗

Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese FamilySemantic proximity Read ↗

A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis.Semantic proximity Read ↗

The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis.Semantic proximity Read ↗

Novel CACNA1S Mutation c.3491 A>C in Hypokalemic Periodic Paralysis: First Report with Functional Validation.Semantic proximity Read ↗

Diverse phenotype of hypokalaemic periodic paralysis within a family.Semantic proximity Read ↗

Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.Semantic proximity Read ↗

Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis.Semantic proximity Read ↗

A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance.Semantic proximity Read ↗

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

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