Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 51 Records) |
Query Trace: KCNQ2[original query] |
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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 |
The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy. Frontiers in neurology 2018 9 530. Ko Ara, Jung Da E, Kim Se H, Kang Hoon-Chul, Lee Joon S, Lee Seung T, Choi Jong R, Kim Heung |
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 |
Genetic Variants Related to Cardiometabolic Traits Are Associated to B Cell Function, Insulin Resistance, and Diabetes Among AmeriCan Indians: The Strong Heart Family Study.
Frontiers in genetics 2018 9 466. Balakrishnan Poojitha, Vaidya Dhananjay, Voruganti V Saroja, Haack Karin, Kent Jack W, North Kari E, Laston Sandra, Howard Barbara V, Umans Jason G, Lee Elisa T, Best Lyle G, MacCluer Jean W, Cole Shelley A, Navas-Acien Ana, Franceschini No |
Neurotransmitter Pathway Genes in Cognitive Decline During Aging: Evidence for GNG4 and KCNQ2 Genes. American journal of Alzheimer's disease and other dementias 2018 05 33 (3): 153-165. Bonham Luke W, Evans Daniel S, Liu Yongmei, Cummings Steven R, Yaffe Kristine, Yokoyama Jennifer |
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 |
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 |
Association between KCNQ2, TCF4 and RGS18 polymorphisms and silent brain infarction based on whole?exome sequencing. Molecular medicine reports 2020 Feb . Kim Jung Oh, Lee Kee Ook, Kim Hyun Woo, Park Han Sung, Kim Jinkwon, Sung Jung Hoon, Oh Doyeun, Kim Ok Joon, Kim Nam Ke |
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 |
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. European journal of human genetics : EJHG 2020 Mar . Hengel Holger, Buchert Rebecca, Sturm Marc, Haack Tobias B, Schelling Yvonne, Mahajnah Muhammad, Sharkia Rajech, Azem Abdussalam, Balousha Ghassan, Ghanem Zaid, Falana Mohammed, Balousha Osama, Ayesh Suhail, Keimer Reinhard, Deigendesch Werner, Zaidan Jimmy, Marzouqa Hiyam, Bauer Peter, Schöls Ludg |
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 |
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 |
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 |
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 |
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 |
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 |
Predicting the germline dependence of hematuria risk in prostate cancer radiotherapy patients. Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2023 5 185 109723. Jung Hun Oh, Sangkyu Lee, Maria Thor, Barry S Rosenstein, Allen Tannenbaum, Sarah Kerns, Joseph O Dea |
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 |
Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders. The Journal of molecular diagnostics : JMD 2023 4 . Se Hee Kim, Soon Sung Kwon, Mi Ri Park, Hyeon Ah Lee, Ji Hun Kim, JiHoon Cha, Sangwoo Kim, Seung Tae Baek, Se Hoon Kim, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Ka |
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 |
Newly discovered variants in unexplained neonatal encephalopathy. Molecular genetics & genomic medicine 2024 1 12 (1): e2354. Rong Zhang, Jingjing Xie, Xiao Yuan, Yan Yu, Yan Zhuang, Fan Zhang, Jianfei Hou, Yanqin Liu, Weiqing Huang, Min Zhang, Junshuai Li, Qiang Gong, Xiaoming Pe |
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- Page last updated:Apr 22, 2024
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