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Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, Schönewolf-Greulich B, Moutton S, Lauritano A, Nappi P, Soldovieri MV, Scheffer IE, Mefford HC, Stong N, Heinzen EL, Goldstein DB, Perez AG, Kossoff EH, Stocco A, Sullivan JA, Shashi V, Gerard B, Francannet C, Bisgaard AM, Tümer Z, Willems M, Rivier F, Vitobello A, Thakkar K, Rajan DS, Barkovich AJ, Weckhuysen S, Cooper EC, Taglialatela M, Cilio MR. Sands TT, et al. Among authors: barkovich aj. Ann Neurol. 2019 Aug;86(2):181-192. doi: 10.1002/ana.25522. Epub 2019 Jun 26. Ann Neurol. 2019. PMID: 31177578 Free article.
Neurodevelopmental abnormalities in children with PHACE syndrome.
Tangtiphaiboontana J, Hess CP, Bayer M, Drolet BA, Nassif LM, Metry DW, Barkovich AJ, Frieden IJ, Fullerton HJ. Tangtiphaiboontana J, et al. Among authors: barkovich aj. J Child Neurol. 2013 May;28(5):608-14. doi: 10.1177/0883073812450073. Epub 2012 Jul 17. J Child Neurol. 2013. PMID: 22805249
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.
Pisano T, Barkovich AJ, Leventer RJ, Squier W, Scheffer IE, Parrini E, Blaser S, Marini C, Robertson S, Tortorella G, Rosenow F, Thomas P, McGillivray G, Andermann E, Andermann F, Berkovic SF, Dobyns WB, Guerrini R. Pisano T, et al. Among authors: barkovich aj. Neurology. 2012 Sep 18;79(12):1244-51. doi: 10.1212/WNL.0b013e31826aac88. Epub 2012 Aug 22. Neurology. 2012. PMID: 22914838 Free PMC article.
SLC25A22 is a novel gene for migrating partial seizures in infancy.
Poduri A, Heinzen EL, Chitsazzadeh V, Lasorsa FM, Elhosary PC, LaCoursiere CM, Martin E, Yuskaitis CJ, Hill RS, Atabay KD, Barry B, Partlow JN, Bashiri FA, Zeidan RM, Elmalik SA, Kabiraj MM, Kothare S, Stödberg T, McTague A, Kurian MA, Scheffer IE, Barkovich AJ, Palmieri F, Salih MA, Walsh CA. Poduri A, et al. Among authors: barkovich aj. Ann Neurol. 2013 Dec;74(6):873-82. doi: 10.1002/ana.23998. Ann Neurol. 2013. PMID: 24596948 Free PMC article.
526 results