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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 10, 2023. (Total: 217827Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Epilepsy and KCTD7[original query]
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Epilepsia 2012 Aug 53 (8): 1387-98.
Lemke Johannes R, Riesch Erik, Scheurenbrand Tim, Schubach Max, Wilhelm Christian, Steiner Isabelle, Hansen Jörg, Courage Carolina, Gallati Sabina, Bürki Sarah, Strozzi Susi, Simonetti Barbara Goeggel, Grunt Sebastian, Steinlin Maja, Alber Michael, Wolff Markus, Klopstock Thomas, Prott Eva C, Lorenz Rüdiger, Spaich Christiane, Rona Sabine, Lakshminarasimhan Maya, Kröll Judith, Dorn Thomas, Krämer Günter, Synofzik Matthis, Becker Felicitas, Weber Yvonne G, Lerche Holger, Böhm Detlef, Biskup Sask
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.
Journal of medical genetics 2018 5 55 (9): 607-616.
Addis Laura, Sproviero William, Thomas Sanjeev V, Caraballo Roberto H, Newhouse Stephen J, Gomez Kumudini, Hughes Elaine, Kinali Maria, McCormick David, Hannan Siobhan, Cossu Silvia, Taylor Jacqueline, Akman Cigdem I, Wolf Steven M, Mandelbaum David E, Gupta Rajesh, van der Spek Rick A, Pruna Dario, Pal Deb
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy.
European journal of medical genetics 2020 1 63 (4): 103848.
Vetri Luigi, Calì Francesco, Vinci Mirella, Amato Carmelo, Roccella Michele, Granata Tiziana, Freri Elena, Solazzi Roberta, Romano Valentino, Elia Mauriz
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