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The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium; Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE. Burgess R, et al. Among authors: rochtus a. Ann Neurol. 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. Ann Neurol. 2019. PMID: 31618474 Free PMC article.
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA; Undiagnosed Diseases Network; Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A. Kelly M, et al. Among authors: rochtus a. Epilepsia. 2019 Mar;60(3):406-418. doi: 10.1111/epi.14653. Epub 2019 Jan 25. Epilepsia. 2019. PMID: 30682224 Free PMC article.
Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load.
Perucca P, Anderson A, Jazayeri D, Hitchcock A, Graham J, Todaro M, Tomson T, Battino D, Perucca E, Ferri MM, Rochtus A, Lagae L, Canevini MP, Zambrelli E, Campbell E, Koeleman BPC, Scheffer IE, Berkovic SF, Kwan P, Sisodiya SM, Goldstein DB, Petrovski S, Craig J, Vajda FJE, O'Brien TJ; EpiPGX and EPIGEN Consortia. Perucca P, et al. Among authors: rochtus a. Ann Neurol. 2020 Jun;87(6):897-906. doi: 10.1002/ana.25724. Epub 2020 Apr 15. Ann Neurol. 2020. PMID: 32215971
The role of sodium channels in sudden unexpected death in pediatrics.
Rochtus AM, Goldstein RD, Holm IA, Brownstein CA, Pérez-Palma E, Haynes R, Lal D, Poduri AH. Rochtus AM, et al. Mol Genet Genomic Med. 2020 Aug;8(8):e1309. doi: 10.1002/mgg3.1309. Epub 2020 May 25. Mol Genet Genomic Med. 2020. PMID: 32449611 Free PMC article.
26 results