Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Intellectual Disability and KCNQ2[original query] |
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KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Annals of neurology 2012 Jan 71 (1): 15-25. Weckhuysen Sarah, Mandelstam Simone, Suls Arvid, Audenaert Dominique, Deconinck Tine, Claes Lieve R F, Deprez Liesbet, Smets Katrien, Hristova Dimitrina, Yordanova Iglika, Jordanova Albena, Ceulemans Berten, Jansen An, Hasaerts Danièle, Roelens Filip, Lagae Lieven, Yendle Simone, Stanley Thorsten, Heron Sarah E, Mulley John C, Berkovic Samuel F, Scheffer Ingrid E, de Jonghe Pet |
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 |
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology 2013 Nov 81 (19): 1697-703. Weckhuysen Sarah, Ivanovic Vanja, Hendrickx Rik, Van Coster Rudy, Hjalgrim Helle, Møller Rikke S, Grønborg Sabine, Schoonjans An-Sofie, Ceulemans Berten, Heavin Sinead B, Eltze Christin, Horvath Rita, Casara Gianluca, Pisano Tiziana, Giordano Lucio, Rostasy Kevin, Haberlandt Edda, Albrecht Beate, Bevot Andrea, Benkel Ira, Syrbe Steffan, Sheidley Beth, Guerrini Renzo, Poduri Annapurna, Lemke Johannes R, Mandelstam Simone, Scheffer Ingrid, Angriman Marco, Striano Pasquale, Marini Carla, Suls Arvid, De Jonghe Peter, |
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 |
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 |
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants. Neurology. Genetics 2021 3 6 (6): e528. Malerba Federica, Alberini Giulio, Balagura Ganna, Marchese Francesca, Amadori Elisabetta, Riva Antonella, Vari Maria Stella, Gennaro Elena, Madia Francesca, Salpietro Vincenzo, Angriman Marco, Giordano Lucio, Accorsi Patrizia, Trivisano Marina, Specchio Nicola, Russo Angelo, Gobbi Giuseppe, Raviglione Federico, Pisano Tiziana, Marini Carla, Mancardi Maria M, Nobili Lino, Freri Elena, Castellotti Barbara, Capovilla Giuseppe, Coppola Antonietta, Verrotti Alberto, Martelli Paola, Miceli Francesco, Maragliano Luca, Benfenati Fabio, Cilio Maria R, Johannesen Kathrine M, Møller Rikke S, Ceulemans Berten, Minetti Carlo, Weckhuysen Sarah, Zara Federico, Taglialatela Maurizio, Striano Pasqua |
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- Page last updated:Apr 22, 2024
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