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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Seizures and KCNQ1[original query]
DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.
Human mutation 2002 Nov 20 (5): 382-91.
Jongbloed Roselie, Marcelis Carlo, Velter Crool, Doevendans Pieter, Geraedts Joep, Smeets Hube
Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing.
The American journal of cardiology 2010 Oct 106 (8): 1124-8.
Tester David J, Benton Amber J, Train Laura, Deal Barbara, Baudhuin Linnea M, Ackerman Michael
Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant.
Heart rhythm 2022 2 19 (6): 998-1007.
Tobert Kathryn E, Tester David J, Zhou Wei, Haglund-Turnquist Carla M, Giudicessi John R, Ackerman Michael
Elucidation of ALG10B as a Novel Long-QT Syndrome-Susceptibility Gene.
Circulation. Genomic and precision medicine 2023 4 16 (2): e003726.
Wei Zhou, Dan Ye, David J Tester, Sahej Bains, John R Giudicessi, Carla M Haglund-Turnquist, Kate M Orland, Craig T January, Lee L Eckhardt, Kathleen R Maginot, Michael J Ackerm
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