Results 61 to 70 of about 1,738 (165)
Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia
European Journal of Neurology, Volume 32, Issue 5, May 2025.ABSTRACT Background This study aimed to determine the role of five new rare SCN4A variants suspected to cause paramyotonia or myotonic disorder. Methods Ten patients from seven families underwent clinical, neurophysiological, imaging, and muscle biopsy examinations.
Vesa Periviita +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.ABSTRACT Report the prevalence of multiple genetic diseases in the Undiagnosed Diseases Network (UDN) cohort in the post‐exome‐sequencing era. UDN subjects underwent genome sequencing before inclusion in the cohort. Records of all UDN subjects until January 2024 were analyzed.
Alex F. Gimeno +4 more
wiley +1 more source
Clinical and biochemical spectrum of hypokalemic paralysis in North: East India
Annals of Indian Academy of Neurology, 2013 Background: Acute hypokalemic paralysis, characterized by acute flaccid paralysis is primarily a calcium channelopathy, but secondary causes like renal tubular acidosis (RTA), thyrotoxic periodic paralysis (TPP), primary hyperaldosteronism, Gitelman′s ...
Ashok K Kayal +3 more
doaj +1 more source
Clinical Case Reports, Volume 13, Issue 1, January 2025.ABSTRACT Severe hypokalemia can primarily present as a weakness of the limbs, without any other clinical manifestation. A life‐threatening level of decreased serum potassium level can be unusually present with isolated weakness of the limbs and might be misdiagnosed, or the diagnosis may be delayed.
Getasew Kassaw Alemu +3 more
wiley +1 more source
Annals of Indian Academy of Neurology, 2012 Objective: There is paucity of reports on thyrotoxic periodic paralysis (TPP) from India. We report the patients with TPP and compare them with idiopathic hypokalemic periodic paralysis (IHPP).
J Kalita +4 more
doaj +1 more source
Adult‐Onset Gitelman Syndrome: Case Analysis and Literature Review
Case Reports in Medicine, Volume 2025, Issue 1, 2025.Background: Gitelman syndrome is a rare autosomal recessive renal tubulopathy, characterized by hypomagnesemia, hypokalemia, hypochloremia, and metabolic alkalosis. The syndrome commonly presents with symptoms such as fatigue, muscle cramps, and tetany, impacting patients’ quality of life.
Intissar Haddiya +6 more
wiley +1 more source
Voltage Sensors in Hypokalemic Periodic Paralysis
Pediatric Neurology Briefs, 2009 Researchers at the National Hospital, Queen Square, London, UK, conducted automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in 83 patients with hypokalemic periodic paralysis (HypoPP).
J Gordon Millichap
doaj +1 more source
Thyrotoxic Hypokalemic Periodic Paralysis: A Case Report
Endocrinology Research and Practice, 2012 Thyrotoxic hypokalemic periodic paralysis is a rare complication of thyrotoxicosis. This clinic condition is often encountered in Asian populations and male gender while thyrotoxicosis is frequently seen in women. The escape of potassium into cell is the
Murat Atmaca +4 more
doaj +1 more source
Concurrent hypokalemic periodic paralysis and bipolar disorder
Journal of Medical Sciences, 2015 Primary periodic paralysis is a rare autosomal dominant disorder of ion-channel dysfunction, manifested by episodic flaccid paresis secondary to abnormal sarcolemma excitability. Membrane destabilization involving Na, K-ATPase has been hypothesized to be
Chia-Lin Lin +2 more
doaj +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2012 Objective To explore the early diagnosis and the therapy of Sjogren's syndrome combined with hypokalemic periodic paralysis. Methods Clinical data of 2 cases with Sjogren's syndrome and hypokalemic periodic paralysis were analyzed.
Xiao⁃juan CHENG +2 more
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