Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 179 Records) |
Query Trace: Epilepsy and SCN1A[original query] |
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Association between SCN1A polymorphism and risk of epilepsy in children: A systematic review and meta-analysis. Seizure 2023 9 112 40-47. Zhihong Zhou, Shuihua Wu, Xin Zou, Shuo |
[Characterization of genetic variants in children with refractory epilepsy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 9 40 (10): 1204-1210. Kaixuan Wang, Dandan Cai, Fang Sheng, Dayan Wang, Xubo Qian, Jing Zhang, Xueyan Jiang, Lidan Xu, Yanting |
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 |
SCN1A Polymorphisms and Haplotypes Are Associated With Valproic Acid Treatment Outcomes in Chinese Children With Epilepsy. Pediatric neurology 2023 7 146 55-64. Jiahao Zhu, Jieluan Lu, Xianhuan Shen, Yaodong He, Hanbing Xia, Wenzhou Li, Huijuan Guo, Jianping Zhang, Xiaomei F |
Efficacy of perampanel in pediatric epilepsy with known and presumed genetic etiology. Annals of clinical and translational neurology 2023 6 . Pu Miao, Xueying Zhu, Wenqin Jin, Lingyan Yu, Yanfang Li, Ye Wang, Qunyan Su, Sha Xu, Shuang Wang, Jianhua Fe |
Study of genetic variants and their clinical significance in Mexican pediatric patients with epilepsy. Gene 2023 6 877 147565. Iris A Feria-Romero, Aracely Reyes-Cuayahuitl, Justina Sosa-Maldonado, Alexia V Montes-Aparicio, Darío Rayo-Mares, Daniel Pérez-Pérez, Israel Grijalva-Otero, Sandra Orozco-Suar |
SCN1A Gene Mutations in Indian Children With Epilepsy: Single Center Experience. Indian pediatrics 2023 5 . Goske Maruthi, Pavithra Dhayalan, Priyanka Kumaran, Jagatheesh Soundraoandiyan, Prakash Gambh |
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition. Brain : a journal of neurology 2023 4 . Martins Custodio Helena, Clayton Lisa M, Bellampalli Ravishankara, Pagni Susanna, Silvennoinen Katri, Caswell Richard, , Brunklaus Andreas, Guerrini Renzo, Koeleman Bobby P C, Lemke Johannes R, Møller Rikke S, Scheffer Ingrid E, Weckhuysen Sarah, Zara Federico, Zuberi Sameer, Kuchenbaecker Karoline, Balestrini Simona, Mills James D, Sisodiya Sanjay |
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 |
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories. Frontiers in neurology 2023 12 14 1276238. Maximilian G W Witzel, Christian Gebhard, Sören Wenzel, Saskia Kleier, Birgit Eichhorn, Peter Lorenz, Laura von der Heyden, Marius Kuhn, Manuel Luedeke, Miriam Döcker, Jerome Jüngling, Björn Schulte, Konstanze Hörtnagel, Ralf Glaubitz, Sarah Knippenberger, Anna Teubert, Angela Abicht, Teresa M Neuha |
The role of copy number variants in the genetic architecture of common familial epilepsies. Epilepsia 2023 12 . Authors are not available |
Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders. Gene 2023 12 897 148071. Nan Pang, Kuokuo Li, Senwei Tan, Meilin Chen, Fang He, Chen Chen, Lifen Yang, Ciliu Zhang, Xiaolu Deng, Li Yang, Leilei Mao, Guoli Wang, Haolin Duan, Xiaole Wang, Wen Zhang, Hui Guo, Jing Peng, Fei Yin, Kun X |
Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing. Journal of human genetics 2023 11 . Regina Gamirova, Elena Shagimardanova, Takehiro Sato, Takayuki Kannon, Rimma Gamirova, Atsushi Taji |
Association of SCN1A Polymorphisms rs3812718 and rs2298771 with Epilepsy. Genes 2024 9 15 (9): . Martha-Spyridoula Katsarou, Anna Siatouni, Danae Tsikrika, Elena Kokkiou, Maria Stefanatou, Anastasia Verentzioti, Athanasia Alexoudi, Stylianos Gatzonis, Nikolaos Drakoulis, Maria Papasav |
SCN1A rs6732655A/T polymorphism: Diagnostic and therapeutic insights for drug-resistant epilepsy. World journal of experimental medicine 2024 9 14 (3): 94999. Aroop Viswas, Pradeep K Dabla, Dharmsheel Shrivastav, Swapan Gupta, Manisha Yadav, Subhash Yadav, Bidhan Chandra Kon |
Genotype-driven therapeutics in DEE and metabolic epilepsy: navigating treatment efficacy and drug resistance. Scientific reports 2024 9 14 (1): 21606. Yen Thi My Nguyen, Bao-Quoc Vu, Duy-Khai Nguyen, Ngoc-Vinh Quach, Liem Thanh Bui, Jeonghan Hong, Chi-Bao B |
Voltage-gated sodium channel epilepsies in a tertiary care center: Phenotypic spectrum with correlation to predicted functional effects. Epilepsy & behavior : E&B 2024 7 158 109930. Fulya Kurekci, Mehmet Akif Kilic, Sinan Akbas, R?dvan Avci, Ceyda Oney, Ayca Dilruba Aslanger, Hulya Maras Genc, Nur Aydinli, Edibe Pembegul Yild |
Unusual Voltage-Gated Sodium and Potassium Channelopathies Related to Epilepsy. Journal of clinical neurology (Seoul, Korea) 2024 7 20 (4): 402-411. Hui Jin Shin, Ara Ko, Se Hee Kim, Joon Soo Lee, Hoon-Chul Ka |
Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2024 7 . Hamide Betul Gerik-Celebi, ?pek Dokurel Çetin, Hilmi Bolat, Gul Unsel-Bol |
Effect of SCN1Aand SCN2A gene polymorphisms on the efficacy of valproic acid treatment in Chinese children with epilepsy. PloS one 2024 6 19 (6): e0304869. Zejun Bao, Huanzhou Li, Jing Hu, Ru Zhao, Ling Yan, Aibin Zhe |
Single-Base Gene Variants in MIR-146A and SCN1A Genes Related to the Epileptogenic Process in Drug-Responsive and Drug-Resistant Temporal Lobe Epilepsy-A Preliminary Study in a Brazilian Cohort Sample. International journal of molecular sciences 2024 6 25 (11): . Renata Parissi Buainain, André Rodrigues Sodré, Jéssica Silva Dos Santos, Karen Antonia Girotto Takazaki, Luciano de Souza Queiroz, Carlos Tadeu Parisi de Oliveira, Paulo Henrique Pires de Aguiar, Fernando Augusto Lima Marson, Manoela Marques Orte |
Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population. Journal of human genetics 2024 6 . Rui Dong, Ruifeng Jin, Hongwei Zhang, Haiyan Zhang, Min Xue, Yue Li, Kaihui Zhang, Yuqiang Lv, Xiaoying Li, Yi Liu, Zhongtao G |
Association between Genetic Polymorphism of SCN1A, GABRA1 and ABCB1 and Drug Responsiveness in Vietnamese Epileptic Children. Medicina (Kaunas, Lithuania) 2024 4 60 (4): . Hai Xuan Tang, Muoi Dang Ho, Nhung Phuong Vu, Hung Vu Cao, Vinh Anh Ngo, Van Thi Nguyen, Thuan Duc Nguyen, Ton Dang Nguy |
[Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (4): 426-431. Bingwei Peng, Haixia Zhu, Yang Tian, Xiaojing Li, Xiuying Wang, Yuanyuan Gao, Yani Zhang, Huiling Shen, Wenxiong Ch |
Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies. Epilepsy & behavior : E&B 2024 4 155 109762. Maria Luiza Benevides, Helena T de Moraes, Diana M M Granados, Luciana C Bonadia, Letícia Sauma, Maria Augusta Montenegro, Marilisa M Guerreiro, Íscia Lopes-Cendes, Ana Carolina Co |
De novo SCN1A missense variant in a patient with Parkinson's disease. Frontiers in genetics 2024 11 15 1496683. Majed Alluqmani, Abdulfatah M Alayoubi, Jamil A Hashmi, Sulman Bas |
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications. Frontiers in genetics 2024 1 14 1300952. Magdalena Krygier, Marta Pietruszka, Marta Zawadzka, Agnieszka Sawicka, Anna Lemska, Monika Limanówka, Jan ?urek, Weronika Tala?ka-Liczbik, Maria Mazurkiewicz-Be?dzi?s |
Impact of variant subtype on electro-clinical phenotype of Dravet syndrome- a South Indian cohort study. Seizure 2024 1 115 81-86. S Krishna, Alfiya Fasaludeen, Manna Jose, Moinak Banerjee, Soumya Sundaram, Ashalatha Radhakrishnan, Ramshekhar N Men |
Exploring the association between familial hemiplegic migraine genes (CACNA1A, ATP1A2 and SCN1A) with migraine and epilepsy: A UK Biobank exome-wide association study. Cephalalgia : an international journal of headache 2025 1 45 (1): 3331024241306103. Christian Staehr, Mette Nyegaard, Flemming W Bach, Palle Duun Rohde, Vladimir V Matchk |
Analysis of initial seizure characteristics in patients with infantile onset genetic epilepsy. Brain & development 2025 1 47 (1): 104319. Youngkyu Shim, Hunmin Kim, Jong Hee Chae, Ki Joong Kim, Byung Chan L |
- Page last reviewed:Feb 1, 2024
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