Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Syndrome and ARX[original query] |
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STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. Epilepsia 2011 1 51 (12): 2449-52. Otsuka Motoko, Oguni Hirokazu, Liang Jao-Shwann, Ikeda Hiroko, Imai Katsumi, Hirasawa Kyoko, Imai Kaoru, Tachikawa Emiko, Shimojima Keiko, Osawa Makiko, Yamamoto Toshiyu |
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. American journal of medical genetics. Part A 2011 1 155A (1): 98-105. Cossée Mireille, Faivre Laurence, Philippe Christophe, Hichri Heifa, de Saint-Martin Anne, Laugel Vincent, Bahi-Buisson Nadia, Lemaitre Jean-François, Leheup Bruno, Delobel Bruno, Demeer Bénédicte, Poirier Karine, Biancalana Valérie, Pinoit Jean-Michel, Julia Sophie, Chelly Jamel, Devys Didier, Mandel Jean-Lou |
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 |
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy. Molecular genetics & genomic medicine 2020 7 8 (9): e1376. Lee Jiwon, Lee Chung, Ki Chang-Seok, Lee Jeeh |
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 |
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