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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 |
| Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. Neurology 2022 Jan . Brunklaus Andreas, Pérez-Palma Eduardo, Ghanty Ismael, Xinge Ji, Brilstra Eva, Ceulemans Berten, Chemaly Nicole, de Lange Iris, Depienne Christel, Guerrini Renzo, Mei Davide, Møller Rikke S, Nabbout Rima, Regan Brigid M, Schneider Amy L, Scheffer Ingrid E, Schoonjans An-Sofie, Symonds Joseph D, Weckhuysen Sarah, Kattan Michael W, Zuberi Sameer M, Lal Denn |
| 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 |
| 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 |
| 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 |
| SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility. Acta neuropathologica 2022 5 144 (1): 107-127. Silvennoinen Katri, Gawel Kinga, Tsortouktzidis Despina, Pitsch Julika, Alhusaini Saud, van Loo Karen M J, Picardo Richard, Michalak Zuzanna, Pagni Susanna, Martins Custodio Helena, Mills James, Whelan Christopher D, de Zubicaray Greig I, McMahon Katie L, van der Ent Wietske, Kirstein-Smardzewska Karolina J, Tiraboschi Ettore, Mudge Jonathan M, Frankish Adam, Thom Maria, Wright Margaret J, Thompson Paul M, Schoch Susanne, Becker Albert J, Esguerra Camila V, Sisodiya Sanjay |
| 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 |
| 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 |
| Long-term Efficacy of Perampanel in a Child with Dravet Syndrome. Child neurology open 2021 10 8 2329048X211050711. Turón-Viñas Eulàlia, Díaz-Gómez Asunción, Coca Elisabet, Dougherty Lucía, Ruiz Carlos, Boronat Susa |
| SCN1A IVS5N+5 G>A Polymorphism and Risk of Febrile Seizure and Epilepsy: A Systematic Review and Meta-Analysis. Frontiers in neurology 2021 1 11 581539. Hao Jindou, Liu Haiying, Ma Jiying, Liu Guosheng, Dong Guoqing, Liu Peihui, Xiao F |
| UNC13B variants associated with partial epilepsy with favourable outcome. Brain : a journal of neurology 2021 4 144 (10): 3050-3060. Wang Jie, Qiao Jing-Da, Liu Xiao-Rong, Liu De-Tian, Chen Yan-Hui, Wu Yi, Sun Yan, Yu Jing, Ren Rong-Na, Mei Zhen, Liu Yu-Xi, Shi Yi-Wu, Jiang Mi, Lin Si-Mei, He Na, Li Bin, Bian Wen-Jun, Li Bing-Mei, Yi Yong-Hong, Su Tao, Liu Han-Kui, Gu Wei-Yue, Liao Wei-Pi |
| 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 |
| 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 |
| 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 |
| Clinical and genetic characteristics of patients with Doose syndrome. Epilepsia open 2020 9 5 (3): 442-450. Hinokuma Nodoka, Nakashima Mitsuko, Asai Hideyuki, Nakamura Kazuyuki, Akaboshi Shinjiro, Fukuoka Masataka, Togawa Masami, Oana Shingo, Ohno Koyo, Kasai Mariko, Ogawa Chikako, Yamamoto Kazuna, Okumiya Kiyohito, Chong Pin Fee, Kira Ryutaro, Uchino Shumpei, Fukuyama Tetsuhiro, Shinagawa Tomoe, Miyata Yohane, Abe Yuichi, Hojo Akira, Kobayashi Kozue, Maegaki Yoshihiro, Ishikawa Nobutsune, Ikeda Hiroko, Amamoto Masano, Mizuguchi Takeshi, Iwama Kazuhiro, Itai Toshiyuki, Miyatake Satoko, Saitsu Hirotomo, Matsumoto Naomichi, Kato Mitsuhi |
| Scn1a and Cacna1a mutations mutually alter their original phenotypes in rats. Neurochemistry international 2020 10 141 104859. Ohmori Iori, Kobayashi Kiyoka, Ouchida Mamo |
| Tiered analysis of whole-exome sequencing for epilepsy diagnosis. Molecular genetics and genomics : MGG 2020 3 295 (3): 751-763. Dunn Paul J, Maher Bridget H, Albury Cassie L, Stuart Shani, Sutherland Heidi G, Maksemous Neven, Benton Miles C, Smith Robert A, Haupt Larisa M, Griffiths Lyn |
| SCN1A Variants in vaccine-related febrile seizures: A prospective study. Annals of neurology 2019 Nov . Damiano John A, Deng Lucy, Li Wenhui, Burgess Rosemary, Schneider Amy L, Crawford Nigel W, Buttery Jim, Gold Michael, Richmond Peter, Macartney Kristine K, Hildebrand Michael S, Scheffer Ingrid E, Wood Nicholas, Berkovic Samuel |
| 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 |
| Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy. Seizure 2019 11 74 8-13. Till Ágnes, Zima Judith, Fekete Anett, Bene Judit, Czakó Márta, Szabó András, Melegh Béla, Hadzsiev Kin |
| 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 |
| SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus. Epileptic disorders : international epilepsy journal with videotape 2019 4 21 (2): 185-191. Bisulli Francesca, Licchetta Laura, Baldassari Sara, Muccioli Lorenzo, Marconi Caterina, Cantalupo Gaetano, Myers Candace, Menghi Veronica, Minardi Raffaella, Caporali Leonardo, Marini Carla, Guerrini Renzo, Mefford Heather C, Tinuper Paolo, Pippucci Tomma |
| The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders. Clinical genetics 2019 4 96 (2): 140-150. Jiao Qingguo, Sun Haiming, Zhang Haoya, Wang Ran, Li Suting, Sun Dan, Yang Xiu-An, Jin Y |
| Time of Day and a Ketogenic Diet Influence Susceptibility to SUDEP in Scn1a Mice. Frontiers in neurology 2019 4 10 278. Teran Frida A, Kim YuJaung, Crotts Megan S, Bravo Eduardo, Emaus Katlynn J, Richerson George |
| Effects of UGT2B7, SCN1A and CYP3A4 on the therapeutic response of sodium valproate treatment in children with generalized seizures. Seizure 2018 Apr 58 96-100. Feng Weixing, Mei Shenghui, Zhu Leting, Yu Yazhen, Yang Weili, Gao Baoqin, Wu Xiaojuan, Zhao Zhigang, Fang Fa |
| 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 |
| Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes. Stem cell reports 2018 8 11 (3): 626-634. Frasier Chad R, Zhang Helen, Offord James, Dang Louis T, Auerbach David S, Shi Huilin, Chen Chunling, Goldman Alica M, Eckhardt L Lee, Bezzerides Vassilios J, Parent Jack M, Isom Lori |
| 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 |
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- Page last updated:Mar 22, 2023
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