Hypokalemic Periodic Paralysis Associated With a Rare <i>CACNA1S</i> Variant (p.Leu1243Val): Expanding the Mutational Spectrum. [PDF]
Case Rep GenetBackground Hypokalemic periodic paralysis (HypoPP) is a rare skeletal muscle channelopathy, most often caused by mutations in CACNA1S or SCN4A. Most pathogenic CACNA1S mutations affect arginine residues in S4 voltage‐sensor domains, but other variants remain poorly understood.
Nader MA.
europepmc +2 more sources
Efficacy of a K<sup>+</sup> Channel Agonist, XEN1101, For Preserving Contractility in Mouse Models of Hypokalemic Periodic Paralysis. [PDF]
Muscle NervePretreatment with an agonist of Kv7 potassium channels (XEN1101) protects the soleus muscle from a loss of force during a 2 mM K+ challenge, in a mouse model of hypokalemic periodic paralysis. ABSTRACT Introduction/Aims Effective management remains lacking for recurrent episodes of acute weakness in hypokalemic periodic paralysis (HypoPP).
Chanchykov V +4 more
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Hypokalemic Periodic Paralysis in a Patient With Primary Sjögren's Syndrome and Distal Renal Tubular Acidosis: A Case Report. [PDF]
Clin Med Insights Case RepIntroduction: Hypokalemic periodic paralysis (HPP) is a severe yet reversible neuromuscular condition precipitated by profound hypokalemia. Autoimmune disorders can exacerbate renal potassium loss resulting in abrupt muscle weakness.
Varma V +9 more
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A Rare Presentation of Sjögren's Syndrome With Hypokalemic Periodic Paralysis Treated Based on Renal Biopsy Findings. [PDF]
CureusHypokalemic periodic paralysis (HPP) is a rare but significant manifestation of Sjögren’s syndrome, often associated with distal renal tubular acidosis (dRTA). We report a case of a 60-year-old man with recurrent HPP due to severe hypokalemia.
Hara M, Ueda M, Hata K, Ueno R.
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Hypokalemic periodic paralysis, a rare yet critical condition: A case report. [PDF]
Med Int (Lond)Hypokalemic periodic paralysis (HPP) is a rare disease. Due to channelopathy caused by mutations in skeletal muscle ion channels, episodes of sudden flaccid muscle weakness and hypokalemia develop as a result of various trigger factors. The present study
Paydas S, Gergerli MA, Celik A.
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A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review. [PDF]
BMC Pediatr, 2023 Background The CACNA1S gene encodes the alpha 1 S-subunit of the voltage-gated calcium channel, which is primarily expressed in the skeletal muscle cells.
Zhou W, Zhao P, Gao J, Zhang Y.
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Steroid-induced hypokalemic periodic paralysis: a case report and literature review. [PDF]
BMC Nephrol, 2023 Background Hypokalemic periodic paralysis (HPP) is a rare channelopathy characterized by episodic attacks of acute muscle weakness concomitant with hypokalemia.
Tai HT, Lee PT, Ou SH.
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Quetiapine-induced hypokalemic periodic paralysis in a pregnant woman: a case report. [PDF]
Korean J Fam MedQuetiapine-induced hypokalemic periodic paralysis (QIHPP) is a rare condition. Herein, we present the case of a 31-year-old pregnant Malay woman diagnosed with bipolar II disorder and QIHPP.
Pauzi MHM +4 more
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Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells. [PDF]
Dis Model Mech, 2023 Hypokalemic periodic paralysis (HypoPP) is a rare genetic disease associated with mutations in CACNA1S or SCN4A encoding the voltage-gated Ca2+ channel Cav1.1 or the voltage-gated Na+ channel Nav1.4, respectively.
Kubota T +8 more
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Hypokalemic periodic paralysis as the first sign of thyrotoxicosis- a rare case report from Somalia. [PDF]
Thyroid Res, 2023 Background Thyrotoxic hypokalemic periodic paralysis (THPP) is a rare complication of hyperthyroidism characterized by thyrotoxicosis, hypokalemia, and paralysis. It is the most common form of acquired periodic paralysis.
Mohamed HN +4 more
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