HuGE Literature Finder
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| Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures. Scientific reports 2022 Jun 12 (1): 10187. Yang Haiyan, Yang Xiaofan, Cai Fang, Gan Siyi, Yang Sai, Wu Liw |
| Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population. Annals of medicine 2022 12 54 (1): 1938-1951. Alghamdi Mansour A, Al-Eitan Laith N, Asiri Ashwag, Rababa'h Doaa M, Alqahtani Sultan A, Aldarami Mohammed S, Alsaeedi Manar A, Almuidh Raghad S, Alzahrani Abdulbari A, Sakah Ahmad H, El Nashar Eman Mohamad, Otaif Mansour Y, Abdel Ghaffar Nawal |
| Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients. Medicina 2022 12 82 (6): 856-865. Juanes Matías, Loos Mariana, Reyes Gabriela, Veneruzzo Gabriel, García Francisco Martín, Aschettino Giovanna, Calligaris Silvana, Martín María Eugenia, Foncuberta María Eugenia, Alonso Cristina N, Caraballo Roberto |
| Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan. Genetics research 2022 2022 1168703. Ashfaq Aqsa, Saleem Tayyaba, Sheikh Nadeem, Maqbool Haf |
Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes.
Brain : a journal of neurology 2022 1 145 (2): 555-568. Skotte Line, Fadista João, Bybjerg-Grauholm Jonas, Appadurai Vivek, Hildebrand Michael S, Hansen Thomas F, Banasik Karina, Grove Jakob, Albiñana Clara, Geller Frank, Bjurström Carmen F, Vilhjálmsson Bjarni J, Coleman Matthew, Damiano John A, Burgess Rosemary, Scheffer Ingrid E, Pedersen Ole Birger Vesterager, Erikstrup Christian, Westergaard David, Nielsen Kaspar René, Sørensen Erik, Bruun Mie Topholm, Liu Xueping, Hjalgrim Henrik, Pers Tune H, Mortensen Preben Bo, Mors Ole, Nordentoft Merete, Dreier Julie W, Børglum Anders D, Christensen Jakob, Hougaard David M, Buil Alfonso, Hviid Anders, Melbye Mads, Ullum Henrik, Berkovic Samuel F, Werge Thomas, Feenstra Bjar |
| Role of SCN2A c.56G/A Gene Polymorphism in Egyptian Children with Genetic Epilepsy with Febrile Seizure Plus. CNS & neurological disorders drug targets 2021 Oct . Berseem Naglaa Fathy, Khattab Essam Shawky A E H, Saad Dalia S, Abd Elnaby Sameh |
| Response to Sodium Channel blocking Antiseizure medications and coding polymorphisms of Sodium Channel genes in Taiwanese epilepsy patients. BMC neurology 2021 Sep 21 (1): 367. Lin Chih-Hsiang, Ho Chen-Jui, Lu Yan-Ting, Tsai Meng-H |
| Diverse genetic causes of polymicrogyria with epilepsy. Epilepsia 2021 Apr 62 (4): 973-983. Authors are not available |
| Genetic polymorphisms in SCN2A are not associated with epilepsy risk and AEDs response: evidence from a meta-analysis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 Apr . Yang Ruiqing, Qian Ruiyi, Chen Kerun, Yi Wei, Sima Xiuti |
| Effects of SCN1A and SCN2A polymorphisms on responsiveness to valproic acid monotherapy in epileptic children: A protocol for systematic review and meta-analysis. Medicine 2021 5 100 (20): e25831. Wen Zhuangfei, Chen Jiang, Zhu Bin, Lu Yan, Chen Liji |
| Genetic convergence of developmental and epileptic encephalopathies and intellectual disability. Developmental medicine and child neurology 2021 7 63 (12): 1441-1447. Carvill Gemma L, Jansen Sandra, Lacroix Amy, Zemel Matthew, Mehaffey Michele, De Vries Petra, Brunner Han G, Scheffer Ingrid E, De Vries Bert B A, Vissers Lisenka E L M, Mefford Heather |
| Relevance of NR1I2 variants on carbamazepine therapy in Mexican Mestizos with epilepsy at a tertiary-care hospital. Pharmacogenomics 2021 10 22 (15): 983-996. Fricke-Galindo Ingrid, Jung-Cook Helgi, Martínez-Juárez Iris E, Monroy-Jaramillo Nancy, Ortega-Vázquez Alberto, Rojas-Tomé Irma S, Dorado Pedro, Peñas-Lledó Eva, Llerena Adrián, López-López Maris |
| Effects of SCN1A and SCN2A polymorphisms on responsiveness to valproic acid monotherapy in epileptic children. Epilepsy research 2020 Oct 168 106485. Liu Maochang, Mao Junjun, Xu Hua, Wang Jing, Zhao Peiwei, Xu Qiong, Du Zhaoso |
| Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy. BioMed research international 2020 3 2020 8096235. Lu Yuan, Su Quanping, Li Ming, Dayimu Alimu, Dai Xiaoyu, Wang Zhiheng, Che Fengyuan, Xue Fuzho |
| Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia 2020 2 61 (3): 387-399. Brunklaus Andreas, Du Juanjiangmeng, Steckler Felix, Ghanty Ismael I, Johannesen Katrine M, Fenger Christina Dühring, Schorge Stephanie, Baez-Nieto David, Wang Hao-Ran, Allen Andrew, Pan Jen Q, Lerche Holger, Heyne Henrike, Symonds Joseph D, Zuberi Sameer M, Sanders Stephan, Sheidley Beth R, Craiu Dana, Olson Heather E, Weckhuysen Sarah, DeJonge Peter, Helbig Ingo, Van Esch Hilde, Busa Tiffany, Milh Matthieu, Isidor Bertrand, Depienne Christel, Poduri Annapurna, Campbell Arthur J, Dimidschstein Jordane, Møller Rikke S, Lal Denn |
| 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 |
| High genetic burden in 163 Chinese children with status epilepticus. Seizure 2020 12 84 40-46. Wang Tianqi, Wang Ji, Ma Yu, Zhou Hao, Ding Ding, Li Chunpei, Du Xiaonan, Jiang Yong-Hui, Wang Yi, Long Shasha, Li Shuang, Lu Guoping, Chen Weiming, Zhou Yuanfeng, Zhou Shuizhen, Wang |
| Lack of association of SCN2A rs17183814 polymorphism with the efficacy of lamotrigine monotherapy in patients with focal epilepsy from Herzegovina area, Bosnia and Herzegovina. Epilepsy research 2019 Oct 158 106221. Pejanovic-Skobic Natasa, Markovic Ivana, Bozina Nada, Basic Silv |
| Effects of GRM4, SCN2A and SCN3B polymorphisms on antiepileptic drugs responsiveness and epilepsy susceptibility. Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society 2019 Jul 27 (5): 731-737. Al-Eitan Laith N, Al-Dalalah Islam M, Aljamal Hanan |
| SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patients. European journal of clinical pharmacology 2019 Jan . Shi Lihong, Zhu Miaomiao, Li Huilan, Wen Zhipeng, Chen Xiaoping, Luo Jia, Lin Cong, Zhang Zanli |
| Clinical and genetic spectrum of SCN2A-associated episodic ataxia. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2019 4 23 (3): 438-447. Schwarz N, Bast T, Gaily E, Golla G, Gorman K M, Griffiths L R, Hahn A, Hukin J, King M, Korff C, Miranda M J, Møller R S, Neubauer B, Smith R A, Smol T, Striano P, Stroud B, Vaccarezza M, Kluger G, Lerche H, Fazeli |
| Data on mutations and Clinical features in SCN1A or SCN2A gene. Data in brief 2019 1 22 492-501. Kong Yanting, Yan Kai, Hu Liyuan, Wang Mingbang, Dong Xinran, Lu Yulan, Wu Bingbing, Wang Huijun, Yang Lin, Zhou Wenh |
| 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 |
| 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 |
| Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures. Clinica chimica acta; international journal of clinical chemistry 2018 4 483 14-19. Kong Yanting, Yan Kai, Hu Liyuan, Wang Mingbang, Dong Xinran, Lu Yulan, Wu Bingbing, Wang Huijun, Yang Lin, Zhou Wenh |
| 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 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 |
| Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. Human mutation 2018 8 39 (12): 1942-1956. Lauxmann Stephan, Verbeek Nienke E, Liu Yuanyuan, Zaichuk Mariana, Müller Stephan, Lemke Johannes R, van Kempen Marjan J A, Lerche Holger, Hedrich Ulrike B |
| The possible effect of SCN1A and SCN2A genetic variants on carbamazepine response among Khyber Pakhtunkhwa epileptic patients, Pakistan. Therapeutics and clinical risk management 2018 14 2305-2313. Nazish Haleema Rehana, Ali Niaz, Ullah Shak |
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- Page last updated:Mar 20, 2023
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