HuGE Literature Finder
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| 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 |
| High genetic burden in 163 Chinese children with status epilepticus. Seizure 2020 12 84 40-46. Wang Tianqi, Wang Ji, Ma Yu, Zhou Hao, Ding Ding, Li Chunpei, Du Xiaonan, Jiang Yong-Hui, Wang Yi, Long Shasha, Li Shuang, Lu Guoping, Chen Weiming, Zhou Yuanfeng, Zhou Shuizhen, Wang |
| Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia. Schizophrenia bulletin 2019 5 46 (2): 328-335. Balakrishna Thivia, Curtis Dav |
| 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 |
| 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 |
| Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation. Psychiatric genetics 2015 Nov . Carroll Liam S, Woolf Rebecca, Ibrahim Yousef, Williams Hywel J, Dwyer Sarah, Walters James, Kirov George, O'Donovan Michael C, Owen Michael |
| Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Clinical genetics 2015 Jul . Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Edery P, Heron D, des Portes V, Sanlaville D, Lesca |
| Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia. Translational psychiatry 2015 5 e607. Rees E, Kirov G, Walters J T, Richards A L, Howrigan D, Kavanagh D H, Pocklington A J, Fromer M, Ruderfer D M, Georgieva L, Carrera N, Gormley P, Palta P, Williams H, Dwyer S, Johnson J S, Roussos P, Barker D D, Banks E, Milanova V, Rose S A, Chambert K, Mahajan M, Scolnick E M, Moran J L, Tsuang M T, Glatt S J, Chen W J, Hwu H-G, , Neale B M, Palotie A, Sklar P, Purcell S M, McCarroll S A, Holmans P, Owen M J, O'Donovan M |
| 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 |
| Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (London, England) 2012 Nov 380 (9854): 1674-82. Rauch Anita, Wieczorek Dagmar, Graf Elisabeth, Wieland Thomas, Endele Sabine, Schwarzmayr Thomas, Albrecht Beate, Bartholdi Deborah, Beygo Jasmin, Di Donato Nataliya, Dufke Andreas, Cremer Kirsten, Hempel Maja, Horn Denise, Hoyer Juliane, Joset Pascal, Röpke Albrecht, Moog Ute, Riess Angelika, Thiel Christian T, Tzschach Andreas, Wiesener Antje, Wohlleber Eva, Zweier Christiane, Ekici Arif B, Zink Alexander M, Rump Andreas, Meisinger Christa, Grallert Harald, Sticht Heinrich, Schenck Annette, Engels Hartmut, Rappold Gudrun, Schröck Evelin, Wieacker Peter, Riess Olaf, Meitinger Thomas, Reis André, Strom Tim |
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