Human Genome Epidemiology Literature Finder
Records 1 - 24 (of 24 Records) |
Query Trace: Seizures and KCNQ2[original query] |
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Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes. Epilepsy research 2002 Dec 52 (2): 107-16. Chioza B, Osei-Lah A, Wilkie H, Nashef L, McCormick D, Asherson P, Makoff A |
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology 2008 Jul 71 (3): 177-83. Neubauer B A, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Müller U, Sander |
Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis. Brain & development 2012 Oct . Ishii A, Yasumoto S, Ihara Y, Inoue T, Fujita T, Nakamura N, Ohfu M, Yamashita Y, Takatsuka H, Taga T, Miyata R, Ito M, Tsuchiya H, Matsuoka T, Kitao T, Murakami K, Lee WT, Kaneko S, Hirose S |
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Annals of neurology 2012 Jan 71 (1): 15-25. Weckhuysen Sarah, Mandelstam Simone, Suls Arvid, Audenaert Dominique, Deconinck Tine, Claes Lieve R F, Deprez Liesbet, Smets Katrien, Hristova Dimitrina, Yordanova Iglika, Jordanova Albena, Ceulemans Berten, Jansen An, Hasaerts Danièle, Roelens Filip, Lagae Lieven, Yendle Simone, Stanley Thorsten, Heron Sarah E, Mulley John C, Berkovic Samuel F, Scheffer Ingrid E, de Jonghe Pet |
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. Orphanet journal of rare diseases 2013 May 8 (1): 1. Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Lacoste C, Villeneuve N, Roubertie A, Heron B, Carneiro M, Kaminska A, Altuzzara C, Blanchard G, Ville D, Barthez MA, Heron D, Gras D, Afenjar A, Dorison N, Doummar D, Billette de Villemeur T, Ann I, Jaquette A, Charles P, Perrier J, Isidor B, Vercueil L, Chabrol B, Badens C, Lesca G, Villard L |
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. Epilepsia 2013 May 54 (5): e86-9. Heron Sarah E, Ong Yeh Sze, Yendle Simone C, McMahon Jacinta M, Berkovic Samuel F, Scheffer Ingrid E, Dibbens Leanne |
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology 2013 Nov 81 (19): 1697-703. Weckhuysen Sarah, Ivanovic Vanja, Hendrickx Rik, Van Coster Rudy, Hjalgrim Helle, Møller Rikke S, Grønborg Sabine, Schoonjans An-Sofie, Ceulemans Berten, Heavin Sinead B, Eltze Christin, Horvath Rita, Casara Gianluca, Pisano Tiziana, Giordano Lucio, Rostasy Kevin, Haberlandt Edda, Albrecht Beate, Bevot Andrea, Benkel Ira, Syrbe Steffan, Sheidley Beth, Guerrini Renzo, Poduri Annapurna, Lemke Johannes R, Mandelstam Simone, Scheffer Ingrid, Angriman Marco, Striano Pasquale, Marini Carla, Suls Arvid, De Jonghe Peter, |
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia 2013 Jan . Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglilatela M, Coviello DA, Vigevano F, Minetti C |
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. PloS one 2015 10 (5): e0126446. Kwong Anna Ka-Yee, Ho Alvin Chi-Chung, Fung Cheuk-Wing, Wong Virginia Chun-N |
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations. Journal of human genetics 2016 Aug . Hortigüela Montesclaros, Fernández-Marmiesse Ana, Cantarín Verónica, Gouveia Sofía, García-Peñas Juan J, Fons Carmen, Armstrong Judith, Barrios Desirée, Díaz-Flores Felícitas, Tirado Pilar, Couce María L, Gutiérrez-Solana Luis |
Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy. Clinical genetics 2016 Oct . Zhang Qingping, Li Jiarui, Zhao Ying, Bao Xinhua, Wei Liping, Wang Jiapi |
Novel and de novo mutations in pediatric refractory epilepsy. Molecular brain 2018 9 11 (1): 48. Liu Jing, Tong Lili, Song Shuangshuang, Niu Yue, Li Jun, Wu Xiu, Zhang Jie, Zai Clement C, Luo Fang, Wu Jian, Li Haiyin, Wong Albert H C, Sun Ruopeng, Liu Fang, Li Baom |
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure 2018 6 59 132-140. Kothur Kavitha, Holman Katherine, Farnsworth Elizabeth, Ho Gladys, Lorentzos Michelle, Troedson Christopher, Gupta Sachin, Webster Richard, Procopis Peter G, Menezes Manoj P, Antony Jayne, Ardern-Holmes Simone, Dale Russell C, Christodoulou John, Gill Deepak, Bennetts Bru |
Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes, brain, and behavior 2018 Jan . Zhou P, He N, Zhang J-W, Lin Z-J, Wang J, Yan L-M, Meng H, Tang B, Li B-M, Liu X-R, Shi Y-W, Zhai Q-X, Yi Y-H, Liao W |
KCNQ2 related early-onset epileptic encephalopathies in Chinese children. Journal of neurology 2019 6 266 (9): 2224-2232. Fang Zhi-Xu, Zhang Min, Xie Ling-Ling, Jiang Li, Hong Si-Qi, Li Xiu-Juan, Hu Yue, Chen J |
Rufinamide efficacy and association with phenotype and genotype in children with intractable epilepsy: A retrospective single center study. Epilepsy research 2019 10 168 106211. Oesch Gabriela, Bozarth Xiuhua Lia |
Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion. Journal of the neurological sciences 2020 Apr 414 116808. Shibata Akiko, Kasai Mariko, Terashima Hiroshi, Hoshino Ai, Miyagawa Taku, Kikuchi Kenjiro, Ishii Atsushi, Matsumoto Hiroshi, Kubota Masaya, Hirose Shinichi, Oka Akira, Mizuguchi Masas |
A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study. Journal of personalized medicine 2020 12 10 (4): . Hong Syuan-Yu, Yang Jiann-Jou, Li Shuan-Yow, Lee Inn-C |
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants. Neurology. Genetics 2021 3 6 (6): e528. Malerba Federica, Alberini Giulio, Balagura Ganna, Marchese Francesca, Amadori Elisabetta, Riva Antonella, Vari Maria Stella, Gennaro Elena, Madia Francesca, Salpietro Vincenzo, Angriman Marco, Giordano Lucio, Accorsi Patrizia, Trivisano Marina, Specchio Nicola, Russo Angelo, Gobbi Giuseppe, Raviglione Federico, Pisano Tiziana, Marini Carla, Mancardi Maria M, Nobili Lino, Freri Elena, Castellotti Barbara, Capovilla Giuseppe, Coppola Antonietta, Verrotti Alberto, Martelli Paola, Miceli Francesco, Maragliano Luca, Benfenati Fabio, Cilio Maria R, Johannesen Kathrine M, Møller Rikke S, Ceulemans Berten, Minetti Carlo, Weckhuysen Sarah, Zara Federico, Taglialatela Maurizio, Striano Pasqua |
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 |
Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy. Frontiers in molecular neuroscience 2023 7 16 1205265. Jia Ye, Siyang Tang, Pu Miao, Zhefeng Gong, Qiang Shu, Jianhua Feng, Yuezhou |
Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia. Heliyon 2024 4 10 (7): e28674. Zhuangzhuang Yuan, Qian Wang, Chenyu Wang, Yuxing Liu, Liangliang Fan, Yihui Liu, Hao Hua |
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- Page last updated:Apr 22, 2024
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