Results 81 to 90 of about 3,642 (184)

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

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, Sara Ramdani, Aymane Kadi, Imane Machmachi, Mohammed Benabdelhak, Yassamine Bentata, Poulami Jha   +6 more
wiley   +1 more source

Andersen-Tawil Syndrome [PDF]

, 2006
Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the α subunit of the potassium channel Kir2.1, were identified in patients ...
Fish, Frank A, Kannankeril, Prince J, Smith, Andrew H   +2 more
core   +2 more sources

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core   +1 more source

Case Report: Thyrotoxic Hypokalemic Periodic Paralysis [PDF]

, 2022
Thyrotoxic crisis, or thyroid storm, is an acute, life threatening event caused by hyperthyroidism with mortality up to 8-25% that can present with multi-system organ involvement.
Lahr, Robin, Schuitema, Kelly, Tamaska, Wayne   +2 more
core   +1 more source

The Diagnostic Value of the Random Urine Potassium‒Creatinine Ratio to the Synchronous Serum Potassium Concentration Squared for Renal Potassium Loss in Hypokalemia Patients

International Journal of Endocrinology, Volume 2025, Issue 1, 2025.
Background: Few parameters are available for diagnosing renal potassium loss in emergency patients or patients receiving treatment. This study aimed to investigate the ratio of random urine potassium‒creatinine to the synchronous serum potassium concentration squared ([UK/UCr]/SK2) and compare it with other parameters in the diagnostic ability of renal
Xinyi Wang, Fei Ding, Xinyi Huang, Yong He, Guixing Li, Suraiya Saleem   +5 more
wiley   +1 more source

Identification of a Novel PIP2 Interaction Site and its Allosteric Regulation by the RCK1 Site Associated with Ca2+ Coordination in Slo1 Channels [PDF]

, 2013
We consider the Schr\"odinger operator on a combinatorial graph consisting of a finite graph and a finite number of discrete half-lines, all jointed together, and compute an asymptotic expansion of its resolvent around the threshold $0$.
Tang, Qiong-Yao, Zhang, Zhe, Meng, Xuan-Yu, Cui, Meng, Logothetis, Diomedes E.   +4 more
core   +2 more sources

Causal Relationships Between Epilepsy, Anti‐Epileptic Drugs, and Serum Vitamin D and Vitamin D Binding Protein: A Bidirectional and Drug Target Mendelian Randomization Study

CNS Neuroscience &Therapeutics, Volume 30, Issue 12, December 2024.
The study utilized single nucleotide polymorphisms from genome‐wide association studies as instrumental variables and employed Mendelian Randomization to uncover causal relationships between epilepsy and both vitamin D and vitamin D‐binding protein.
Zizhang Cheng, Jinyi Zuo, Xintao Peng, Haoran Zhang, Wenlong Su, Guoming Luan, Yuguang Guan   +6 more
wiley   +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, Szu-Nian Yang, I-Shin Shiah   +2 more
doaj   +1 more source

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard, Lindsay V. Clark, Erdal Cosgun, Kimberly A. Aldinger, Andrew Timms, Lely A. Quina, Juan M. Lavista Ferres, David Jardine, Elisabeth A. Haas, Tatiana M. Becker, Chelsea M. Pagan, Avni Santani, Diego Martinez, Soumitra Barua, Zakkary McNutt, Addie Nesbitt, Edwin A. Mitchell, Jan‐Marino Ramirez   +17 more
wiley   +1 more source