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Page 1
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Martins Custodio H, et al. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
Postictal Psychosis in Epilepsy: A Clinicogenetic Study.
Braatz V, Martins Custodio H, Leu C, Agrò L, Wang B, Calafato S, Rayner G, Doyle MG, Hengsbach C, Bisulli F, Weber YG, Gambardella A, Delanty N, Cavalleri G, Foong J, Scheffer IE, Berkovic SF, Bramon E, Balestrini S, Sisodiya SM. Braatz V, et al. Among authors: martins custodio h. Ann Neurol. 2021 Sep;90(3):464-476. doi: 10.1002/ana.26174. Epub 2021 Aug 3. Ann Neurol. 2021. PMID: 34288049 Free PMC article.
Complex epilepsy: it's all in the history.
Silvennoinen K, Martins Custodio H, Balestrini S, Rugg-Gunn F, England Research Consortium G, Sisodiya SM. Silvennoinen K, et al. Among authors: martins custodio h. Pract Neurol. 2020 Oct 17:practneurol-2020-002522. doi: 10.1136/practneurol-2020-002522. Online ahead of print. Pract Neurol. 2020. PMID: 33070112 No abstract available.
Late diagnoses of Dravet syndrome: How many individuals are we missing?
Silvennoinen K, Puvirajasinghe C, Hudgell K, Sidhu MK, Martins Custodio H; Genomics England Research Consortium; Jones WD, Balestrini S, Sisodiya SM. Silvennoinen K, et al. Among authors: martins custodio h. Epilepsia Open. 2021 Dec;6(4):770-776. doi: 10.1002/epi4.12525. Epub 2021 Aug 5. Epilepsia Open. 2021. PMID: 34268891 Free PMC article.
SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility.
Silvennoinen K, Gawel K, Tsortouktzidis D, Pitsch J, Alhusaini S, van Loo KMJ, Picardo R, Michalak Z, Pagni S, Martins Custodio H, Mills J, Whelan CD, de Zubicaray GI, McMahon KL, van der Ent W, Kirstein-Smardzewska KJ, Tiraboschi E, Mudge JM, Frankish A, Thom M, Wright MJ, Thompson PM, Schoch S, Becker AJ, Esguerra CV, Sisodiya SM. Silvennoinen K, et al. Among authors: martins custodio h. Acta Neuropathol. 2022 Jul;144(1):107-127. doi: 10.1007/s00401-022-02429-0. Epub 2022 May 12. Acta Neuropathol. 2022. PMID: 35551471 Free PMC article.
The influence of temperature and genomic variation on intracranial EEG measures in people with epilepsy.
McNicholas OC, Jiménez-Jiménez D, Oliveira JFA, Ferguson L, Bellampalli R, McLaughlin C, Chowdhury FA, Martins Custodio H, Moloney P, Mavrogianni A, Diehl B, Sisodiya SM. McNicholas OC, et al. Among authors: martins custodio h. Brain Commun. 2024 Sep 10;6(5):fcae269. doi: 10.1093/braincomms/fcae269. eCollection 2024. Brain Commun. 2024. PMID: 39258258 Free PMC article.