Genetic Study of a Greek Family with Hypokalemic Periodic Paralysis in Four Generations.

Christos Yapijakis, Anna Douka, Iphigenia Gintoni, George P Chrousos

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Article in Advances in experimental medicine and biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 authors.

Christos YapijakisUnit of Orofacial Genetics, First Department of Pediatrics, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece. cyapi@med.uoa.gr.

Anna DoukaUnit of Orofacial Genetics, First Department of Pediatrics, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece.

Iphigenia GintoniUnit of Orofacial Genetics, First Department of Pediatrics, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece.

George P ChrousosUniversity Research Institute for the Study of Genetic and Malignant Disorders in Childhood, Choremion Laboratory, "Aghia Sophia" Children's Hospital, Athens, Greece.

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No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionHypokalemic periodic paralysis (hypoPP) is a rare autosomal dominant skeletal muscle ion channelopathy characterized by recurrent episodes of reversible flaccid paralysis with concurrent hypokalemia. Most of the familial hypoPP patients have missense mutations in the CACNA1S gene, which encodes the α-1S subunit of the L-type voltage-dependent calcium channel. A family with four cases of hypoPP is presented. MATERIAL AND

methodsA 67-year-old male patient with symptoms of hypokalemic paralysis was examined neurologically and genetically. His family history revealed some cases with some similar symptoms. CACNA1S gene sequencing analysis was performed in the proband and six of his relatives.

resultsThe missense mutation Arg528His was identified in heterozygosity with the normal allele in the proband, three of his sons, and two other close relatives.

conclusionThe molecular genetic analysis confirmed the diagnosis of hypoPP in several members of the studied family.

Indexed as

Calcium Channels, L-TypeHypokalemic Periodic ParalysisMutation, MissenseAgedGreeceHumansMalePedigreeCACNA1S protein, humanCalcium Channels, L-TypeCACNA1SChannelopathyHypokalemiaHypoPPPeriodic paralysisSkeletal muscle

Identifiers

PMID41273566

DOI10.1007/s00109-005-0638-4

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