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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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS. Journal of the neurological sciences 2016 Sep 368 272-6. Saitoh M, Kobayashi K, Ohmori I, Tanaka Y, Tanaka K, Inoue T, Horino A, Ohmura K, Kumakura A, Takei Y, Hirabayashi S, Kajimoto M, Uchida T, Yamazaki S, Shiihara T, Kumagai T, Kasai M, Terashima H, Kubota M, Mizuguchi |
| Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Molecular syndromology 2016 Sep 7 (4): 210-219. Møller Rikke S, Larsen Line H G, Johannesen Katrine M, Talvik Inga, Talvik Tiina, Vaher Ulvi, Miranda Maria J, Farooq Muhammad, Nielsen Jens E K, Svendsen Lene Lavard, Kjelgaard Ditte B, Linnet Karen M, Hao Qin, Uldall Peter, Frangu Mimoza, Tommerup Niels, Baig Shahid M, Abdullah Uzma, Born Alfred P, Gellert Pia, Nikanorova Marina, Olofsson Kern, Jepsen Birgit, Marjanovic Dragan, Al-Zehhawi Lana I K, Peñalva Sofia J, Krag-Olsen Bente, Brusgaard Klaus, Hjalgrim Helle, Rubboli Guido, Pal Deb K, Dahl Hans |
| Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures. Epilepsy research 2015 Aug 117 1-6. Saitoh Makiko, Ishii Atsushi, Ihara Yukiko, Hoshino Ai, Terashima Hiroshi, Kubota Masaya, Kikuchi Kenjiro, Yamanaka Gaku, Amemiya Kaoru, Hirose Shinichi, Mizuguchi Masas |
| Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. PloS one 2015 10 (5): e0126446. Kwong Anna Ka-Yee, Ho Alvin Chi-Chung, Fung Cheuk-Wing, Wong Virginia Chun-N |
| Common variants associated with general and MMR vaccine-related febrile seizures.
Nature genetics 2014 Dec 46 (12): 1274-82. Feenstra Bjarke, Pasternak Björn, Geller Frank, Carstensen Lisbeth, Wang Tongfei, Huang Fen, Eitson Jennifer L, Hollegaard Mads V, Svanström Henrik, Vestergaard Mogens, Hougaard David M, Schoggins John W, Jan Lily Yeh, Melbye Mads, Hviid Ande |
| Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy. Human genetics 2014 May 133 (5): 651-9. Baum Larry, Haerian Batoul Sadat, Ng Ho-Keung, Wong Virginia C N, Ng Ping Wing, Lui Colin H T, Sin Ngai Chuen, Zhang Chunbo, Tomlinson Brian, Wong Gary Wing-Kin, Tan Hui Jan, Raymond Azman Ali, Mohamed Zahurin, Kwan Patri |
| Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology 2013 Sep 81 (11): 992-8. Nakamura Kazuyuki, Kato Mitsuhiro, Osaka Hitoshi, Yamashita Sumimasa, Nakagawa Eiji, Haginoya Kazuhiro, Tohyama Jun, Okuda Mitsuko, Wada Takahito, Shimakawa Shuichi, Imai Katsumi, Takeshita Saoko, Ishiwata Hisako, Lev Dorit, Lerman-Sagie Tally, Cervantes-Barragán David E, Villarroel Camilo E, Ohfu Masaharu, Writzl Karin, Gnidovec Strazisar Barbara, Hirabayashi Shinichi, Chitayat David, Myles Reid Diane, Nishiyama Kiyomi, Kodera Hirofumi, Nakashima Mitsuko, Tsurusaki Yoshinori, Miyake Noriko, Hayasaka Kiyoshi, Matsumoto Naomichi, Saitsu Hiroto |
| Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. Epilepsia 2013 May 54 (5): e86-9. Heron Sarah E, Ong Yeh Sze, Yendle Simone C, McMahon Jacinta M, Berkovic Samuel F, Scheffer Ingrid E, Dibbens Leanne |
| Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia 2013 Jan . Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglilatela M, Coviello DA, Vigevano F, Minetti C |
| Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression. Pharmacogenetics and genomics 2008 Nov 18 (11): 989-98. Kwan Patrick, Poon Wai Sang, Ng Ho-Keung, Kang David E, Wong Virginia, Ng Ping Wing, Lui Colin H T, Sin Ngai Chuen, Wong Ka S, Baum Lar |
| Lack of evidence for association between D2S124 and D2S111 polymorphisms of the SCN2A gene and idiopathic generalized epilepsy with generalized tonic clonic seizures. Journal of child neurology 2007 Jul 22 (7): 907-10. Volzone Anna, Rizzo Renata, Gagliano Antonella, Palmarino Mariella, Lucarelli Paola, Arpino Carla, Curatolo Pao |
| Association analysis of gamma2 subunit of gamma-aminobutyric acid (GABA) type A receptor and voltage-gated sodium channel type II alpha-polypeptide gene mutation in southern Chinese children with febrile seizures. Journal of child neurology 2007 Jun 22 (6): 714-9. Xiumin Wang , Meichun Xu , Lizhong D |
| Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans. Neuroscience letters 2002 Aug 329 (2): 249-51. Nakayama Junko, Yamamoto Nao, Hamano Kenzo, Iwasaki Nobuaki, Ohta Masayasu, Nakahara Satoko, Horigome Yumi, Nakahara Chieko, Noguchi Emiko, Shiono Junko, Shimakura Yae, Yamakawa-Kobayashi Kimiko, Matsui Akira, Arinami Tad |
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- Page last updated:Mar 30, 2023
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