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Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.

Neurogenetics - 1 Jan 2022

Brugnoni Raffaella, Canioni Eleonora, Filosto Massimiliano, Pini Antonella, Tonin Paola, Rossi Tommaso, Canavese Carlotta, Eoli Marica, Siciliano Gabriele, Lauria Giuseppe, Mantegazza Renato, Maggi Lorenzo

Abstract excerpt

Familial periodic paralyses (PPs) are inherited disorders of skeletal muscle characterized by recurrent episodes of flaccid muscle weakness. PPs are classified as hypokalemic (HypoPP), normokalemic (NormoPP), or hyperkalemic (HyperPP) according to the potassium level during the paralytic attacks. HypoPP is an autosomal dominant disease caused by mutations in the CACNA1S gene, encoding for Cav1.1 channel...

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Source

Identifiers

PMID: 34608571
DOI: 10.1007/s10048-021-00673-2

Genes

CACNA1S
SCN4A

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.

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