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Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
medRxiv [Preprint]. 2023 Oct 12:2023.10.11.23296741. doi: 10.1101/2023.10.11.23296741.
medRxiv. 2023.
PMID: 37873138
Free PMC article.
Preprint.
Cation leak: a common functional defect causing HCN1 developmental and epileptic encephalopathy.
McKenzie CE, Forster IC, Soh MS, Phillips AM, Bleakley LE, Russ-Hall SJ, Myers KA, Scheffer IE, Reid CA.
McKenzie CE, et al. Among authors: russ hall sj.
Brain Commun. 2023 May 17;5(3):fcad156. doi: 10.1093/braincomms/fcad156. eCollection 2023.
Brain Commun. 2023.
PMID: 37265603
Free PMC article.
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Does long-term phenytoin have a place in Dravet syndrome?
Zographos GA, Russ-Hall SJ, Scheffer IE.
Zographos GA, et al. Among authors: russ hall sj.
Ann Clin Transl Neurol. 2022 Dec;9(12):2036-2040. doi: 10.1002/acn3.51684. Epub 2022 Oct 31.
Ann Clin Transl Neurol. 2022.
PMID: 36314457
Free PMC article.
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The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M, Cestèle S.
Brunklaus A, et al. Among authors: russ hall sj.
Brain. 2022 Nov 21;145(11):3816-3831. doi: 10.1093/brain/awac210.
Brain. 2022.
PMID: 35696452
Free PMC article.
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