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

[Screening SCN4A gene for mutations with denaturing high performance liquid chromatography technology in a Chinese family with normokalemic periodic paralysis].

Zhonghua yi xue za zhi - 17 Jan 2004

Guo Xiu-hai, Wu Wei-ping, Zhang Yan-hua, Wang Hong-bin, Mao Yan-ling, Zhu Ke

Abstract excerpt

OBJECTIVE: To study the clinical features of normokalemic periodic paralysis (normoKPP) and to confirm the relation between Met1592Val mutation and normoKPP and clarify its clinical features. METHODS: The clinical features of 14 patients in a Chinese family of normoKPP were summarized. All 24 exons of SCN4A gene were screened with denaturing high performance liquid chromatography (DHPLC) technology, and then...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Base Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromatography, High Pressure Liquid

Share to Molecular Sequence Data

Share to Mutation

Share to NAV1.4 Voltage-Gated Sodium Channel

Share to Paralyses, Familial Periodic

Share to Sodium Channels

Source

Identifiers

PMID: 14990128

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Screening SCN4A gene for mutations with denaturing high performance liquid chromatography technology in a Chinese family with normokalemic periodic paralysis].PMID 14990128Read ↗

[Clinical and molecular genetic analysis of a family with normokalemic periodic paralysis].Semantic proximity Read ↗

[A novel mutation of SCN4A gene causes hypokalemic periodic paralysis in a Chinese family].Semantic proximity Read ↗

Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.Semantic proximity Read ↗

Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing.Semantic proximity Read ↗

[Screening of genetic mutations in a Chinese pedigree affected with hypokalemic periodic paralysis].Semantic proximity Read ↗

[R1239H mutation of CACNA1S gene in a Chinese family with hypokalaemic periodic paralysis].Semantic proximity Read ↗

[The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].Semantic proximity Read ↗

[Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V mutation].Semantic proximity Read ↗

Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.Semantic proximity Read ↗

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

Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.Semantic proximity Read ↗

New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysisSemantic proximity Read ↗

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