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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 - 2 (of 2 Records)

Query Trace: Syndrome and CLCN2[original query]
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.
Human mutation 2009 Mar 30 (3): 397-405.
Saint-Martin Cécile, Gauvain Grégory, Teodorescu Georgeta, Gourfinkel-An Isabelle, Fedirko Estelle, Weber Yvonne G, Maljevic Snezana, Ernst Jan-Peter, Garcia-Olivares Jennie, Fahlke Christoph, Nabbout Rima, LeGuern Eric, Lerche Holger, Poncer Jean Christophe, Depienne Christ
A Rare Novel CLCN2 Variation and Risk of Gilles de la Tourette Syndrome: Whole-Exome Sequencing in a Multiplex Family and a Follow-Up Study in a Chinese Population.
Frontiers in psychiatry 2020 12 11 543911.
Yuan Aihua, Wang Zengge, Xu Wen, Ding Qiang, Zhao Ying, Han Jingjing, Sun Jinh
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