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Article

Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect.

Neuromuscular disorders : NMD - 1 Jan 1996

Grosson C L, Esteban J, McKenna-Yasek D, Gusella J F, Brown R H

Abstract excerpt

In three families with hypokalemic periodic paralysis (HOPP) we have confirmed the presence of a missense mutation (arginine 528 to histidine) within the gene CACNL1A3 encoding the alpha 1 subunit of the L-type, voltage-sensitive calcium channel. Additionally, we have identified two novel polymorphisms within this gene located in close proximity to the mutation. Haplotype analysis using these and other...

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PMID: 8845715
DOI: 10.1016/0960-8966(95)00018-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect.PMID 8845715Read ↗

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A Novel CLCN1 Gene Mutation Associated with Hypokalemic Periodic Paralysis in a Pregnant Woman.Semantic proximity Read ↗

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