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| Development and Validation of a Prediction Model for Early Diagnosis of 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 |
| 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 |
| SCN1A Variants in vaccine-related febrile seizures: A prospective study. Annals of neurology 2019 Nov . Damiano J A, Deng L, Li W H, Burgess R, Schneider A L, Crawford N W, Buttery J, Gold M, Richmond P, Macartney K K, Hildebrand M S, Scheffer I E, Wood N, Berkovic S |
| The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children. Frontiers in neurology 2019 10 505. Long Shasha, Zhou Hao, Li Shuang, Wang Tianqi, Ma Yu, Li Chunpei, Zhou Yuanfeng, Zhou Shuizhen, Wu Bingbing, Wang |
| Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes, brain, and behavior 2018 Jan . Zhou Peng, He Na, Zhang Jing-Wen, Lin Zhi-Jian, Wang Jie, Yan Li-Min, Meng Heng, Tang Bin, Li Bing-Mei, Liu Xiao-Rong, Shi Yi-Wu, Zhai Qiong-Xiang, Yi Yong-Hong, Liao Wei-Pi |
| Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome. Genetics and molecular research : GMR 2017 May 16 (2): . Jiménez-Arredondo R E, Brambila-Tapia A J L, Mercado-Silva F M, Magaña-Torres M T, Figuera L |
| 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 |
| The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. Clinical genetics 2016 Aug . Liu Aijie, Xu Xiaojing, Yang Xiaoling, Jiang Yuwu, Yang Zhixian, Liu Xiaoyan, Wu Ye, Wu Xiru, Wei Liping, Zhang Yueh |
| Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy. Pediatric neurology 2016 Jul . Segal Eric, Pedro Helio, Valdez-Gonzalez Karen, Parisotto Sarah, Gliksman Felicia, Thompson Stephen, Sabri Jomard, Fertig Ev |
| SCN1A and SCN1B gene polymorphisms and their association with plasma concentrations of carbamazepine and carbamazepine 10, 11 epoxide in Iranian epileptic patients. Iranian journal of basic medical sciences 2015 Dec 18 (12): 1215-20. Namazi Soha, Azarpira Negar, Javidnia Katayoon, Emami Mehrdad, Rahjoo Rahimeh, Berahmand Razieh, Borhani-Haghighi Afsh |
| 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 |
| Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis. Epilepsia 2015 Mar 56 (3): e26-32. Hartmann Corinna, von Spiczak Sarah, Suls Arvid, Weckhuysen Sarah, Buyse Gunnar, Vilain Catheline, Van Bogaert Patrick, De Jonghe Peter, Cook Joseph, Muhle Hiltrud, Stephani Ulrich, Helbig Ingo, Mefford Heather |
| Association of ABCB1, CYP3A4, EPHX1, FAS, SCN1A, MICA, and BAG6 polymorphisms with the risk of carbamazepine-induced Stevens-Johnson syndrome/toxic epidermal necrolysis in Chinese Han patients with epilepsy. Epilepsia 2014 Aug 55 (8): 1301-6. He Xiao-Jing, Jian Ling-Yan, He Xiao-Lin, Tang Man, Wu Yan, Xu Yuan-Yuan, Sun Xiao-Jie, Zhao Li-M |
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Brain : a journal of neurology 2013 Oct 136 (Pt 10): 3140-50. Kasperaviciute Dalia, Catarino Claudia B, Matarin Mar, Leu Costin, Novy Jan, Tostevin Anna, Leal Bárbara, Hessel Ellen V S, Hallmann Kerstin, Hildebrand Michael S, Dahl Hans-Henrik M, Ryten Mina, Trabzuni Daniah, Ramasamy Adaikalavan, Alhusaini Saud, Doherty Colin P, Dorn Thomas, Hansen Jörg, Krämer Günter, Steinhoff Bernhard J, Zumsteg Dominik, Duncan Susan, Kälviäinen Reetta K, Eriksson Kai J, Kantanen Anne-Mari, Pandolfo Massimo, Gruber-Sedlmayr Ursula, Schlachter Kurt, Reinthaler Eva M, Stogmann Elisabeth, Zimprich Fritz, Théâtre Emilie, Smith Colin, O'Brien Terence J, Meng Tan K, Petrovski Slave, Robbiano Angela, Paravidino Roberta, Zara Federico, Striano Pasquale, Sperling Michael R, Buono Russell J, Hakonarson Hakon, Chaves João, Costa Paulo P, Silva Berta M, da Silva António M, de Graan Pierre N E, Koeleman Bobby P C, Becker Albert, Schoch Susanne, von Lehe Marec, Reif Philipp S, Rosenow Felix, Becker Felicitas, Weber Yvonne, Lerche Holger, Rössler Karl, Buchfelder Michael, Hamer Hajo M, Kobow Katja, Coras Roland, Blumcke Ingmar, Scheffer Ingrid E, Berkovic Samuel F, Weale Michael E, , Delanty Norman, Depondt Chantal, Cavalleri Gianpiero L, Kunz Wolfram S, Sisodiya Sanjay |
| The SCN1A gene variants and epileptic encephalopathies. Journal of human genetics 2013 Sep 58 (9): 573-80. Parihar Rashmi, Ganesh Subramani |
| CACNA1A variants may modify the epileptic phenotype of Dravet syndrome. Neurobiology of disease 2013 Feb 50 209-17. Ohmori Iori, Ouchida Mamoru, Kobayashi Katsuhiro, Jitsumori Yoshimi, Mori Akiko, Michiue Hiroyuki, Nishiki Teiichi, Ohtsuka Yoko, Matsui Hide |
| The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. Developmental medicine and child neurology 2013 Feb 55 (2): 154-61. Brunklaus Andreas, Dorris Liam, Ellis Rachael, Reavey Eleanor, Lee Elizabeth, Forbes Gordon, Appleton Richard, Cross J Helen, Ferrie Colin, Hughes Imelda, Jollands Alice, King Mary D, Livingston John, Lynch Bryan, Philip Sunny, Scheffer Ingrid E, Williams Ruth, Zuberi Sameer |
| Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy. Orphanet journal of rare diseases 2013 8 (1): 176. Nabbout Rima, Chemaly Nicole, Chipaux Mathilde, Barcia Giulia, Bouis Charles, Dubouch Celia, Leunen Dorothee, Jambaqué Isabelle, Dulac Olivier, Dellatolas Georges, Chiron Catheri |
| Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations. Developmental medicine and child neurology 2012 Dec 54 (12): 1144-8. Appenzeller Silke, Helbig Ingo, Stephani Ulrich, Häusler Martin, Kluger Gerhard, Bungeroth May, Müller Stefanie, Kuhlenbäumer Gregor, van Baalen Andre |
| Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
Human molecular genetics 2012 Dec 21 (24): 5359-72. , , Steffens Michael, Leu Costin, Ruppert Ann-Kathrin, Zara Federico, Striano Pasquale, Robbiano Angela, Capovilla Giuseppe, Tinuper Paolo, Gambardella Antonio, Bianchi Amedeo, La Neve Angela, Crichiutti Giovanni, de Kovel Carolien G F, Kasteleijn-Nolst Trenité Dorothée, de Haan Gerrit-Jan, Lindhout Dick, Gaus Verena, Schmitz Bettina, Janz Dieter, Weber Yvonne G, Becker Felicitas, Lerche Holger, Steinhoff Bernhard J, Kleefuß-Lie Ailing A, Kunz Wolfram S, Surges Rainer, Elger Christian E, Muhle Hiltrud, von Spiczak Sarah, Ostertag Philipp, Helbig Ingo, Stephani Ulrich, Møller Rikke S, Hjalgrim Helle, Dibbens Leanne M, Bellows Susannah, Oliver Karen, Mullen Saul, Scheffer Ingrid E, Berkovic Samuel F, Everett Kate V, Gardiner Mark R, Marini Carla, Guerrini Renzo, Lehesjoki Anna-Elina, Siren Auli, Guipponi Michel, Malafosse Alain, Thomas Pierre, Nabbout Rima, Baulac Stephanie, Leguern Eric, Guerrero Rosa, Serratosa Jose M, Reif Philipp S, Rosenow Felix, Mörzinger Martina, Feucht Martha, Zimprich Fritz, Kapser Claudia, Schankin Christoph J, Suls Arvid, Smets Katrin, De Jonghe Peter, Jordanova Albena, Caglayan Hande, Yapici Zuhal, Yalcin Destina A, Baykan Betul, Bebek Nerses, Ozbek Ugur, Gieger Christian, Wichmann Heinz-Erich, Balschun Tobias, Ellinghaus David, Franke Andre, Meesters Christian, Becker Tim, Wienker Thomas F, Hempelmann Anne, Schulz Herbert, Rüschendorf Franz, Leber Markus, Pauck Steffen M, Trucks Holger, Toliat Mohammad R, Nürnberg Peter, Avanzini Giuliano, Koeleman Bobby P C, Sander Thom |
| Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. Epilepsy research 2012 Dec 102 (3): 195-200. Wang Ji-wen, Shi Xiu-yu, Kurahashi Hirokazu, Hwang Su-Kyeong, Ishii Atsushi, Higurashi Norimichi, Kaneko Sunao, Hirose Shinichi, |
| Do mutations in SCN1B cause Dravet syndrome? Epilepsy research 2012 Nov . Kim YO, Dibbens L, Marini C, Suls A, Chemaly N, Mei D, McMahon JM, Iona X, Berkovic SF, De Jonghe P, Guerrini R, Nabbout R, Scheffer IE |
| Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 2012 Aug 53 (8): 1387-98. Lemke Johannes R, Riesch Erik, Scheurenbrand Tim, Schubach Max, Wilhelm Christian, Steiner Isabelle, Hansen Jörg, Courage Carolina, Gallati Sabina, Bürki Sarah, Strozzi Susi, Simonetti Barbara Goeggel, Grunt Sebastian, Steinlin Maja, Alber Michael, Wolff Markus, Klopstock Thomas, Prott Eva C, Lorenz Rüdiger, Spaich Christiane, Rona Sabine, Lakshminarasimhan Maya, Kröll Judith, Dorn Thomas, Krämer Günter, Synofzik Matthis, Becker Felicitas, Weber Yvonne G, Lerche Holger, Böhm Detlef, Biskup Sask |
| Genotype-phenotype associations in SCN1A-related epilepsies. Neurology 2011 Feb 76 (7): 594-600. Zuberi S M, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes G |
| A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS genetics 2009 Sep 5 (9): e1000649. Singh Nanda A, Pappas Chris, Dahle E Jill, Claes Lieve R F, Pruess Timothy H, De Jonghe Peter, Thompson Joel, Dixon Missy, Gurnett Christina, Peiffer Andy, White H Steve, Filloux Francis, Leppert Mark |
| SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 2009 Jul 50 (7): 1670-8. Marini Carla, Scheffer Ingrid E, Nabbout Rima, Mei Davide, Cox Kathy, Dibbens Leanne M, McMahon Jacinta M, Iona Xenia, Carpintero Rochio Sanchez, Elia Maurizio, Cilio Maria Roberta, Specchio Nicola, Giordano Lucio, Striano Pasquale, Gennaro Elena, Cross J Helen, Kivity Sara, Neufeld Miriam Y, Afawi Zaid, Andermann Eva, Keene Daniel, Dulac Olivier, Zara Federico, Berkovic Samuel F, Guerrini Renzo, Mulley John |
| Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? Epilepsia 2009 Apr 50 (4): 953-6. Sijben Angelique E J, Sithinamsuwan Pasiri, Radhakrishnan Ashalata, Badawy Radwa A B, Dibbens Leanne, Mazarib Aziz, Lev Dorit, Lerman-Sagie Tally, Straussberg Rachel, Berkovic Samuel F, Scheffer Ingrid |
| Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. Journal of medical genetics 2009 Mar 46 (3): 183-91. Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, Keren B, Abert B, Gautier A, Baulac S, Arzimanoglou A, Cazeneuve C, Nabbout R, LeGuern |
| Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS genetics 2009 Feb 5 (2): e1000381. Depienne Christel, Bouteiller Delphine, Keren Boris, Cheuret Emmanuel, Poirier Karine, Trouillard Oriane, Benyahia Baya, Quelin Chloé, Carpentier Wassila, Julia Sophie, Afenjar Alexandra, Gautier Agnès, Rivier François, Meyer Sophie, Berquin Patrick, Hélias Marie, Py Isabelle, Rivera Serge, Bahi-Buisson Nadia, Gourfinkel-An Isabelle, Cazeneuve Cécile, Ruberg Merle, Brice Alexis, Nabbout Rima, Leguern Er |
| A screening test for the prediction of Dravet syndrome before one year of age. Epilepsia 2008 Apr 49 (4): 626-33. Hattori Junri, Ouchida Mamoru, Ono Junko, Miyake Susumu, Maniwa Satoshi, Mimaki Nobuyoshi, Ohtsuka Yoko, Ohmori Io |
- Page last reviewed:Oct 1, 2021
- Page last updated:Jun 28, 2022
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