Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 33 Records) |
Query Trace: Epilepsy and KCNQ2[original query] |
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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 |
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Clinical genetics 2015 Jul . Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Edery P, Heron D, des Portes V, Sanlaville D, Lesca |
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 |
Array-comparative genomic hybridization analysis of a cohort of Saudi patients with epilepsy. CNS & neurological disorders drug targets 2015 14 (4): 468-75. Faheem Muhammad, Naseer Muhammad I, Chaudhary Adeel G, Kumosani Taha A, Rasool Mahmood, Algahtani Hussein A, Bibi Fehmida, Kamal Mohammad A, Al-Qahtani Mohammad |
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 |
KCNQ2-Associated Neonatal Epilepsy: Phenotype Might Correlate With Genotype. Journal of child neurology 2017 Jan 883073817701873. Lee Inn-Chi, Yang Jiann-Jou, Liang Jao-Shwann, Chang Tung-Ming, Li Shuan-Y |
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. Journal of human genetics 2017 Nov . Zeng Qi, Yang Xiaoling, Zhang Jing, Liu Aijie, Yang Zhixian, Liu Xiaoyan, Wu Ye, Wu Xiru, Wei Liping, Zhang Yueh |
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Annals of neurology 2017 Mar 81 (3): 419-429. Olson Heather E, Kelly McKenna, LaCoursiere Christopher M, Pinsky Rebecca, Tambunan Dimira, Shain Catherine, Ramgopal Sriram, Takeoka Masanori, Libenson Mark H, Julich Kristina, Loddenkemper Tobias, Marsh Eric D, Segal Devorah, Koh Susan, Salman Michael S, Paciorkowski Alex R, Yang Edward, Bergin Ann M, Sheidley Beth Rosen, Poduri Annapur |
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 |
Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy. Epilepsia open 2018 3 2 (2): 236-243. Fung Cheuk-Wing, Kwong Anna Ka-Yee, Wong Virginia Chun-N |
Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome. Medicine 2018 12 97 (50): e13565. Jiang TieJia, Shen Yaping, Chen Huai, Yuan Zhefeng, Mao Shanshan, Gao Fe |
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 |
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genetics in medicine : official journal of the American College of Medical Genetics 2019 5 21 (11): 2496-2503. Heyne Henrike O, Artomov Mykyta, Battke Florian, Bianchini Claudia, Smith Douglas R, Liebmann Nora, Tadigotla Vasisht, Stanley Christine M, Lal Dennis, Rehm Heidi, Lerche Holger, Daly Mark J, Helbig Ingo, Biskup Saskia, Weber Yvonne G, Lemke Johannes |
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children. Frontiers in neurology 2019 10 505. Long Shasha, Zhou Hao, Li Shuang, Wang Tianqi, Ma Yu, Li Chunpei, Zhou Yuanfeng, Zhou Shuizhen, Wu Bingbing, Wang |
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 |
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy. Molecular genetics & genomic medicine 2020 7 8 (9): e1376. Lee Jiwon, Lee Chung, Ki Chang-Seok, Lee Jeeh |
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 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 |
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 |
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Journal of neurology 2021 1 268 (6): 2192-2207. Chakrabarty Sanjiban, Govindaraj Periyasamy, Sankaran Bindu Parayil, Nagappa Madhu, Kabekkodu Shama Prasada, Jayaram Pradyumna, Mallya Sandeep, Deepha Sekar, Ponmalar J N Jessiena, Arivinda Hanumanthapura R, Meena Angamuthu Kanikannan, Jha Rajan Kumar, Sinha Sanjib, Gayathri Narayanappa, Taly Arun B, Thangaraj Kumarasamy, Satyamoorthy Kapaet |
Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients. Clinical laboratory 2022 Jun 68 (6): . Gun-Bilgic Dilek, Polat Muzaff |
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations. Molecular genetics & genomic medicine 2023 8 e2269. Liangliang Jiang, Shaohua Bi, Li Lin, Fan He, Fang De |
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 |
Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability. Molecular neurobiology 2023 4 . Mirgul Bayanova, Aidos K Bolatov, Assiya Bazenova, Lyazzat Nazarova, Alissa Nauryzbayeva, Naanlep Matthew Tanko, Saule Rakhimova, Nazerke Satvaldina, Diana Samakyzy, Ulan Kozhamkulov, Ulykbek Kairov, Ainur Akilzhanova, Dos Sarbass |
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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