Results 211 to 220 of about 3,762 (237)

Familial hypokalemic periodic paralysis in pregnancy: A case report

The journal of obstetrics and gynaecology research, 2019
Familial hypokalemic periodic paralysis (f‐hypoPP) is a rare neuromuscular disorder causing intermittent muscle paralysis. Pregnancy can exacerbate f‐hypoPP, yet obstetric management is not well documented. We present a case of a nulliparous woman with f‐
A. Frappaolo, Mary A. Vadnais
semanticscholar   +1 more source

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

Neurogenetics, 2021
R. Brugnoni, E. Canioni, M. Filosto, A. Pini, P. Tonin, Tommaso Rossi, C. Canavese, M. Eoli, G. Siciliano, G. Lauria, R. Mantegazza, L. Maggi   +11 more
semanticscholar   +1 more source

Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family

Journal of Pediatric Endocrinology & Metabolism (JPEM), 2019
Background Familial hypokalemic periodi9c paralysis (hypoKPP) is a rare autosomal dominant disorder characterized by episodic paralytic attacks caused by fall in blood potassium. CACNA1S, SCN4A or KCNJ2 variants can cause hypoKPP.
Aman Ullah, R. Khan, M. Naeem
semanticscholar   +1 more source

Familial Periodic Paralyses

2009
Robert J. Desnick, Orlando Guntinas-Lichius, George W. Padberg, Gustav Schonfeld, Xiaobo Lin, Maurizio Averna, Pin Yue, John-John B. Schnog, Victor E. A. Gerdes, Pedro R. Cutillas, Robert J. Unwin, Heike Schulze, Konrad Sandhoff, Jean-François Pellissier, Georges Serratrice, Dominique Figarella-Branger, Cord Sunderkötter, Marcelo Gustavo Binker, Laura Iris Cosen-Binker, Matthias Wettstein, Peter von den Driesch, Rima Nabbout, Massimo Mantegazza, Olivier Dulac, Johann Michael Schröder, Ho Sung Kang, Johann Michael Schröder, Marina Marchetti Hugo Ten Cate, Marina Marchetti, Hugo ten Cate, Lev I. Patrushev, Lee S. Weinstein, Adiba Isa, Fernando Azpiroz, Guang-Sheng Li, Ling Jing, Hui Xu, Anne M. Molloy, John M. Scott, Cord Sunderkötter, Axel Lorentz, Stephan C. Bischoff, Filippo Tamanini, Filippo Tamanini, Thomas Klockgether, Derek A. Wong, Jürgen Kopitz, Carolina von Reitzenstein, Michael Cantz   +48 more
openaire   +2 more sources

Gray zone in the spectrum of autoinflammatory diseases: familial Mediterranean fever accompanying periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome: single-center experience

European Journal of Pediatrics, 2023
Elif Kılıç Konte, Fatih Haşlak, Mehmet Yıldız, Neslihan Gucuyener, Ipek Ulkersoy, Aybuke Gunalp, E. Aslan, Amra Adrovic, S. Şahin, K. Barut, O. Kasapcopur   +10 more
semanticscholar   +1 more source

FAMILIAL PERIODIC PARALYSIS

, 1973
N. Gordon
semanticscholar   +1 more source

Prevalence and risk factors of low vitamin D levels in children and adolescents with familial hypokalemic periodic paralysis

European Journal of Pediatrics, 2023
Jae-Hoon Min, Ji Young Lee, Hye-Sung Ahn, H. Cui, C. Seo, June-Bum Kim   +5 more
semanticscholar   +1 more source

Familial Periodic Paralysis

, 1996
L. Ptáček, R. Griggs
semanticscholar   +1 more source

Periodic paralysis: Understanding channelopathies

Current Neurology and Neuroscience Reports, 2002
F. Lehmann-Horn, K. Jurkat-Rott, R. Rüdel   +2 more
semanticscholar   +1 more source

Galectin-3: a new biomarker for differentiating periodic fever, adenitis, pharyngitis, aphthous stomatitis (PFAPA) syndrome from familial Mediterranean fever?

Rheumatology International, 2021
E. D. Batu, E. Vezir, E. Öğüş, Özlem Özbaş Demirel, G. Akpınar, S. Demir, S. Özen   +6 more
semanticscholar   +1 more source