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

Genetic Screening of Patients with Thyrotoxic Hypokalemic Periodic Paralysis: An Experience from a Tertiary Care Hospital in the Northeast of Brazil.

Endocrine, metabolic & immune disorders drug targets - 1 Jan 2021

Gbefon Cossi Y, Sobral Carla P S, Caldas Adriana, Rocha Viviane C C, Azulay Rossana S S, Nascimento Gilvan C, Damianse Sabrina S P, Gaspar Silvia A S, Faria Manuel S, Magalhães Marcelo

Abstract excerpt

BACKGROUND: Thyrotoxic Hypokalemic Periodic Paralysis (THPP) is a rare neuromuscular disease characterized by recurrent episodes of skeletal muscle weakness associated with hypokalemia. Alterations in protein-encoding genes that are part of ion channels seem to be related to the development of this disease. However, the pathogenic potential of some variants in these genomic regions is not yet fully understood....

Read the complete abstract on PubMed

Topics

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

Share to Brazil
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypokalemic Periodic Paralysis

Share to Mutation

Share to NAV1.4 Voltage-Gated Sodium Channel

Share to Potassium Channels, Inwardly Rectifying

Share to Tertiary Care Centers

Source

Identifiers

PMID: 34554906
DOI: 10.2174/1871530321666210719114937

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic Screening of Patients with Thyrotoxic Hypokalemic Periodic Paralysis: An Experience from a Tertiary Care Hospital in the Northeast of Brazil.PMID 34554906Read ↗

Manifestation, Management and Molecular Analysis of Candidate Genes in Two Rare Cases of Thyrotoxic Hypokalemic Periodic ParalysisSemantic proximity Read ↗

Thyrotoxic periodic paralysis in an Italian man: clinical manifestation and genetic analysis.Semantic proximity Read ↗

Thyrotoxic periodic paralysis: clinical and molecular aspects.Semantic proximity Read ↗

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.Semantic proximity Read ↗

Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to Thyrotoxic Periodic Paralysis.Semantic proximity Read ↗

The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis.Semantic proximity Read ↗

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

Thyrotoxic Hypokalemic Periodic Paralysis: Pathophysiological Mechanisms.Semantic proximity Read ↗

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

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

Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis.Semantic proximity Read ↗

Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis.Semantic proximity Read ↗

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