[HTML][HTML] Hypokalemic periodic paralysis

L Gutmann, R Conwit, JM Shefner… - UpToDate. UpToDate Inc, 2021 - medilib.ir
… ●Calcium channel disorders – A mutation in the gene that codes for the alpha-1 subunit of
calcium channel in skeletal muscle is the most common genetic abnormality in hypokalemic

[HTML][HTML] Hypokalemic periodic paralysis

F Weber, F Lehmann-Horn - 2018 - europepmc.org
… HypoPP is the most common cause of periodic paralysis. The four major differential …
Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel alpha1 subunit …

Permanent muscle weakness in hypokalemic periodic paralysis

S Holm-Yildiz, N Witting, J Dahlqvist… - Neurology, 2020 - AAN Enterprises
… HypoPP-causing mutations in CACNA1S varies from asymptomatic to periodic paralysis with
… Most cases of HypoPP are caused by mutations in the calcium channel gene, CACNA1S. …

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

R Brugnoni, E Canioni, M Filosto, A Pini, P Tonin… - neurogenetics, 2022 - Springer
… -type α-1 subunit calcium channel of skeletal muscle; 20% have mutations in SCN4A gene
(… -gated sodium channel [3, 7]. In up to 3% of the HypoPP patients, the mutations have been …

[HTML][HTML] Case report: A novel CACNA1S mutation associated with hypokalemic periodic paralysis

EP Nuzhnyi, AS Arestova, AV Rossokhin… - Frontiers in …, 2023 - frontiersin.org
… Background: Hypokalemic periodic paralysis (… causing recurrent episodes of flaccid
paralysis. Most cases are associated with CACNA1S mutation, causing defect of calcium channel

An atypical CaV1.1 mutation reveals a common mechanism for hypokalemic periodic paralysis

SC Cannon - Journal of General Physiology, 2017 - rupress.org
… 1.4 channels expressed in Xenopus oocytes. Compared with Ca V 1.1, mutations of Na V 1.4
are a less frequent cause … of SCN4A mutations lagged the identification of calcium channel

Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor

T Kubota, F Wu, S Vicart, M Nakaza… - Brain …, 2020 - academic.oup.com
… -induced paralytic attacks. Our rare cases with typical hypokalaemic periodic paralysis
the essential defect in hypokalaemic periodic paralysis mutant channels is the gating pore …

Novel CACNA1S mutation in hypokalaemic periodic paralysis

T Luís, MI Linhares, SR Silva… - BMJ Case Reports …, 2022 - casereports.bmj.com
… the calcium channel defect can lead to episodes of weakness is not yet identified. In patients
with sodium channel defect, the paralysis … . Hypokalemic periodic paralysis with reversible …

Periodic paralysis

D Fialho, RC Griggs, E Matthews - Handbook of clinical neurology, 2018 - Elsevier
Ca v 1.1 α-subunit of dihydropyridine sensitive L-type voltage-gated calcium channel
Hypokalemic periodic paralysis … depolarization in hypokalemic periodic paralysis (HypoPP) which …

[PDF][PDF] Familial Hypokalemic Periodic Paralysis with Mutation in a Voltage-gated Calcium

EA Acoglu, B Akkaya, B Sarigul, S Senel - neurology, 2019 - scholar.archive.org
hypokalemic periodic paralysis is related to mutations in the calcium channel gene CACNA1S
and the sodium channel … FHPP caused by calcium or sodium channel mutations. These …