Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 212 Records) |
Query Trace: SCN1A[original query] |
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Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study. Italian journal of pediatrics 2022 Sep 48 (1): 157. Ghazala Esraa, Shahin Doaa A, Wahba Yah |
Vagus nerve stimulation in children with drug-resistant epilepsy of monogenic etiology. Frontiers in neurology 2022 9 13 951850. Xie Han, Ma Jiayi, Ji Taoyun, Liu Qingzhu, Cai Lixin, Wu |
Phenotypic spectrum of the SCN1A mutation (from febrile seizures to Dravet syndrome). Bratislavske lekarske listy 2022 123 (7): 483-486. Ceska Katarina, Danhofer Pavlina, Horak Ondrej, Spanelova Klara, Kolar Senad, Oslejskova Hana, Aulicka Stefan |
Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy. Frontiers in pediatrics 2022 7 10 919996. Naseer Muhammad Imran, Abdulkareem Angham Abdulrhman, Rasool Mahmood, Algahtani Hussein, Muthaffar Osama Yousef, Pushparaj Peter Nates |
ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities. Frontiers in molecular neuroscience 2022 7 15 864074. Zhou Peng, Meng Heng, Liang Xiaoyu, Lei Xiaoyun, Zhang Jingwen, Bian Wenjun, He Na, Lin Zhijian, Song Xingwang, Zhu Weiwen, Hu Bin, Li Bingmei, Yan Limin, Tang Bin, Su Tao, Liu Hankui, Mao Yong, Zhai Qiongxiang, Yi Yongho |
Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country. Epilepsy & behavior reports 2022 12 20 100575. Akbar Fizza, Saleh Raisa, Kirmani Salman, Chand Prem, Mukhtiar Khairunnisa, Jan Farida, Kumar Raman, Ibrahim Shahn |
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 |
Brain molecular mechanisms in Rasmussen encephalitis. Epilepsia 2022 11 64 (1): 218-230. Leitner Dominique F, Lin Ziyan, Sawaged Zacharia, Kanshin Evgeny, Friedman Daniel, Devore Sasha, Ueberheide Beatrix, Chang Julia W, Mathern Gary W, Anink Jasper J, Aronica Eleonora, Wisniewski Thomas, Devinsky Orr |
Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique. Balkan medical journal 2022 11 40 (1): 13-20. Atl? Engin, Gürkan Hakan, Güldiken Babürhan, Eker Damla, Yalç?ntepe Sinem, Demir Selma, Atl? Emine ?kb |
Genetic and molecular features of seizure-freedom following surgical resections for focal epilepsy: A pilot study. Frontiers in neurology 2022 10 13 942643. Louis Shreya, Busch Robyn M, Lal Dennis, Hockings Jennifer, Hogue Olivia, Morita-Sherman Marcia, Vegh Deborah, Najm Imad, Ghosh Chaitali, Bazeley Peter, Eng Charis, Jehi Lara, Rotroff Daniel |
Behavioral phenotyping of young Scn1a haploinsufficient mice. Epilepsy & behavior : E&B 2022 10 136 108903. Reiber Maria, Miljanovic Nina, Schönhoff Katharina, Palme Rupert, Potschka Heidr |
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 |
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 |
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 |
SCN1A polymorphisms influence the antiepileptic drugs responsiveness in Jordanian epileptic patients. Journal of medical biochemistry 2023 3 42 (2): 214-223. Abduljabbar Rami, Eid Tamimi Duaa, Yousef Al-Motassem, Mukred Saeed Ramzi, Zawiah Mohamm |
Genetic and environmental risk factors of acute infection-triggered encephalopathy. Frontiers in neuroscience 2023 2 17 1119708. Mizuguchi Masashi, Shibata Akiko, Kasai Mariko, Hoshino |
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 |
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 |
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- Page last updated:Mar 25, 2024
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