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Page 1
Diagnostic Biomarkers of Epilepsy.
Sueri C, Gasparini S, Balestrini S, Labate A, Gambardella A, Russo E, Leo A, Casarotto S, Pittau F, Trimboli M, Cianci V, Ascoli M, Cavalli SM, Ferrigno G, Aguglia U, Ferlazzo E. Sueri C, et al. Among authors: balestrini s. Curr Pharm Biotechnol. 2018;19(6):440-450. doi: 10.2174/1389201019666180713095251. Curr Pharm Biotechnol. 2018. PMID: 30003857 Review.
A registry for Dravet syndrome: The Italian experience.
Balestrini S, Doccini V, Giometto S, Lucenteforte E, De Masi S, Giarola E, Brambilla I, Pieroni F, Perulli M, Battaglia D, Specchio N, Ragona F, Granata T, Pellacani S, Ferrari A, Marini C, Matricardi S, Cesaroni E, Giordano L, Accorsi P, Sciruicchio V, Tinuper P, Messana T, Russo A, Pruna D, Nosadini M, De Giorgis V, Caputo D; Residras Collaboration Group; Pellegrin S, Lo Barco T, Darra F, Dalla Bernardina B, Guerrini R. Balestrini S, et al. Epilepsia Open. 2023 Jun;8(2):517-534. doi: 10.1002/epi4.12730. Epub 2023 Mar 30. Epilepsia Open. 2023. PMID: 36938796 Free PMC article.
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. Among authors: balestrini s. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Among authors: balestrini s. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy.
Lenge M, Balestrini S, Napolitano A, Mei D, Conti V, Baldassarri G, Trivisano M, Pellacani S, Macconi L, Longo D, Rossi Espagnet MC, Cappelletti S; PCDH19 Clinical Study Group; D'Incerti L, Barba C, Specchio N, Guerrini R. Lenge M, et al. Among authors: balestrini s. Transl Psychiatry. 2024 Jan 18;14(1):35. doi: 10.1038/s41398-024-02753-x. Transl Psychiatry. 2024. PMID: 38238304 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paper.
Perucca E, French JA, Aljandeel G, Balestrini S, Braga P, Burneo JG, Felli AC, Cross JH, Galanopoulou AS, Jain S, Jiang Y, Kälviäinen R, Lim SH, Meador KJ, Mogal Z, Nabbout R, Sofia F, Somerville E, Sperling MR, Triki C, Trinka E, Walker MC, Wiebe S, Wilmshurst JM, Wirrell E, Yacubian EM, Kapur J. Perucca E, et al. Among authors: balestrini s. Epilepsia. 2024 Mar;65(3):533-541. doi: 10.1111/epi.17877. Epub 2024 Jan 27. Epilepsia. 2024. PMID: 38279786 Review.
Structural imaging biomarkers of sudden unexpected death in epilepsy.
Wandschneider B, Koepp M, Scott C, Micallef C, Balestrini S, Sisodiya SM, Thom M, Harper RM, Sander JW, Vos SB, Duncan JS, Lhatoo S, Diehl B. Wandschneider B, et al. Among authors: balestrini s. Brain. 2015 Oct;138(Pt 10):2907-19. doi: 10.1093/brain/awv233. Epub 2015 Aug 10. Brain. 2015. PMID: 26264515 Free PMC article.
106 results