Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 3 (of 3 Records) |
Query Trace: Kcnq2-related Disorders[original query] |
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Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy. American journal of medical genetics. Part A 2021 3 185 (6): 1803-1815. Mary Laura, Nourisson Elsa, Feger Claire, Laugel Vincent, Chaigne Denys, Keren Boris, Afenjar Alexandra, Billette Thierry, Trost Detlef, Cieuta-Walti Cécile, Gerard Bénédicte, Piton Amélie, Schaefer Eli |
Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder. BMC pediatrics 2021 10 21 (1): 477. Xu Yan, Dou Ya-Lan, Chen Xiang, Dong Xin-Ran, Wang Xin-Hua, Wu Bing-Bing, Cheng Guo-Qiang, Zhou Yuan-Fe |
Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders. Frontiers in molecular neuroscience 2022 5 15 809810. Xiao Tiantian, Chen Xiang, Xu Yan, Chen Huiyao, Dong Xinran, Yang Lin, Wu Bingbing, Chen Liping, Li Long, Zhuang Deyi, Chen Dongmei, Zhou Yuanfeng, Wang Huijun, Zhou Wenh |
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- Page last updated:May 20, 2024
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