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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 9, 2024. (Total: 232338Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Epilepsy and ARHGEF9[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
A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report.
The Journal of international medical research 2021 12 49 (11): 3000605211058372.
Qiu Tong, Dai Qian, Wang Q
[Clinical analysis of early-onset infantile epileptic encephalopathy associated with synonymous variant of the ARHGEF9 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 10 39 (10): 1145-1148.
Liu Yanping, Yang Liu, Li Tingting, Cao Ruiming, Ren Chunming, Lei Xia
Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA
Molecular psychiatry 2022 Feb .
Hines Dustin J, Contreras April, Garcia Betsua, Barker Jeffrey S, Boren Austin J, Moufawad El Achkar Christelle, Moss Stephen J, Hines Rochelle
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