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Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy.
Balestrini S, Koepp MJ, Gandhi S, Rickman HM, Shin GY, Houlihan CF, Anders-Cannon J, Silvennoinen K, Xiao F, Zagaglia S, Hudgell K, Ziomek M, Haimes P, Sampson A, Parker A, Helen Cross J, Pardington R, Nastouli E, Swanton C; Crick COVID Consortium (CCC); Sander JW, Sisodiya SM; ChAlfont keepS vulnerAble People safe (ASAP) Consortium:. Balestrini S, et al. Epilepsy Behav. 2021 Feb;115:107602. doi: 10.1016/j.yebeh.2020.107602. Epub 2020 Nov 5. Epilepsy Behav. 2021. PMID: 33279440 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.
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.
Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome.
Lenge M, Balestrini S, Mei D, Macconi L, Caligiuri ME, Cuccarini V, Aquino D, Mazzi F, d'Incerti L, Darra F, Bernardina BD, Guerrini R. Lenge M, et al. Among authors: balestrini s. Cereb Cortex. 2023 Aug 8;33(16):9532-9541. doi: 10.1093/cercor/bhad224. Cereb Cortex. 2023. PMID: 37344172 Free PMC article.
Retinal nerve fibre layer thinning is associated with drug resistance in epilepsy.
Balestrini S, Clayton LM, Bartmann AP, Chinthapalli K, Novy J, Coppola A, Wandschneider B, Stern WM, Acheson J, Bell GS, Sander JW, Sisodiya SM. Balestrini S, et al. J Neurol Neurosurg Psychiatry. 2016 Apr;87(4):396-401. doi: 10.1136/jnnp-2015-310521. Epub 2015 Apr 17. J Neurol Neurosurg Psychiatry. 2016. PMID: 25886782 Free PMC article.
106 results