Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 94 Records) |
Query Trace: SCN2A[original query] |
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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 |
Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia. Biomedicines 2020 5 8 (5): . Maksemous Neven, Sutherland Heidi G, Smith Robert A, Haupt Larisa M, Griffiths Lyn |
Genetic landscape of autism spectrum disorder in Vietnamese children. Scientific reports 2020 3 10 (1): 5034. Tran Kien Trung, Le Vinh Sy, Bui Hoa Thi Phuong, Do Duong Huy, Ly Ha Thi Thanh, Nguyen Hieu Thi, Dao Lan Thi Mai, Nguyen Thanh Hong, Vu Duc Minh, Ha Lien Thi, Le Huong Thi Thanh, Mukhopadhyay Arijit, Nguyen Liem Tha |
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 |
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 |
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 |
Analysis of Genetic Variants in SCN1A, SCN2A, KCNK18, TRPA1 and STX1A as a Possible Marker of Migraine. Current genomics 2020 Apr 21 (3): 224-236. Kowalska Marta, Prendecki Micha?, Kapelusiak-Pielok Magdalena, Grzelak Teresa, ?agan-J?drzejczyk Urszula, Wiszniewska Ma?gorzata, Kozubski Wojciech, Dorszewska Jolan |
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 |
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 |
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 |
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 |
Association Between SCN1A rs2298771, SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 Polymorphisms and Responsiveness to Antiepileptic Drugs: A Meta-Analysis. Frontiers in neurology 2021 2 11 591828. Li Mengmeng, Zhong Rui, Lu Yingxue, Zhao Qian, Li Guangjian, Lin Weiho |
Further delineation of phenotypic spectrum of SCN2A-related disorder. American journal of medical genetics. Part A 2021 12 188 (3): 867-877. Richardson Ruth, Baralle Diana, Bennett Christopher, Briggs Tracy, Bijlsma Emilia K, Clayton-Smith Jill, Constantinou Panayiotis, Foulds Nicola, Jarvis Joanna, Jewell Rosalyn, Johnson Diana S, McEntagart Meriel, Parker Michael J, Radley Jessica A, Robertson Lisa, Ruivenkamp Claudia, Rutten Julie W, Tellez James, Turnpenny Peter D, Wilson Valerie, Wright Michael, Balasubramanian Mee |
The diffuse distribution of Nav1.2 on mid-axonal regions is a marker for unmyelinated fibers in the central nervous system. Neuroscience research 2021 11 177 145-150. Yamano Risa, Miyazaki Haruko, Nukina Nobuyu |
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 |
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 |
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nature genetics 2022 Sep 54 (9): 1305-1319. Zhou Xueya, Feliciano Pamela, Shu Chang, Wang Tianyun, Astrovskaya Irina, Hall Jacob B, Obiajulu Joseph U, Wright Jessica R, Murali Shwetha C, Xu Simon Xuming, Brueggeman Leo, Thomas Taylor R, Marchenko Olena, Fleisch Christopher, Barns Sarah D, Snyder LeeAnne Green, Han Bing, Chang Timothy S, Turner Tychele N, Harvey William T, Nishida Andrew, O'Roak Brian J, Geschwind Daniel H, , Michaelson Jacob J, Volfovsky Natalia, Eichler Evan E, Shen Yufeng, Chung Wendy |
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 SCN2A, ABCB1 and CYP2C19*3 with genetic susceptibility to major depressive disorder]. Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] 2022 4 56 (3): 287-294. Zhang T, Rao Q M, He Y Y, Cai J T, Liu H Y, Lin Y |
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 |
Exome Evaluation of Autism-Associated Genes in Amazon American Populations. Genes 2022 2 13 (2): . da Costa Giovana E, Fernandes Giordane L, Rodrigues Juliana C G, da V B Leal Diana F, Pastana Lucas F, Pereira Esdras E B, Assumpção Paulo P, Burbano Rommel M R, Dos Santos Sidney E B, Guerreiro João F, Fernandes Marianne R, Dos Santos Ney P |
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 |
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 |
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 |
Frequency of SCN2A-related disorder in the regional epilepsy centre of brescia between 2002 and 2021. Clinical neurology and neurosurgery 2023 9 234 107983. Corinna Filippi, Giuseppe Milito, Patrizia Accorsi, Alice Muda, Elisa Maria Fazzi, Paola Martelli, Antonella Riva, Lucio Giorda |
Functional analysis of a novel de novo SCN2A variant in a patient with seizures refractory to oxcarbazepine. Frontiers in molecular neuroscience 2023 5 16 1159649. Xiaoyue Hu, Miao Jing, Yanping Wang, Yanshan Liu, Ying H |
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 |
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders. EBioMedicine 2023 12 99 104928. Kuokuo Li, Jifang Xiao, Zhengbao Ling, Tengfei Luo, Jingyu Xiong, Qian Chen, Lijie Dong, Yijing Wang, Xiaomeng Wang, Zhaowei Jiang, Lu Xia, Zhen Yu, Rong Hua, Rui Guo, Dongdong Tang, Mingrong Lv, Aojie Lian, Bin Li, GuiHu Zhao, Xiaojin He, Kun Xia, Yunxia Cao, Jinchen |
CYP2C19-rs4986893 confers risk to major depressive disorder and bipolar disorder in the Han Chinese population whereas ABCB1-rs1045642 acts as a protective factor. BMC psychiatry 2023 1 23 (1): 69. Zhang Ting, Rao Qingmin, Lin Kangguang, He Yongyin, Cai Jintai, Yang Mengxin, Xu Ying, Hou Le, Lin Yulong, Liu Haiyi |
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- Page last updated:Apr 29, 2024
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