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Page 1
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Møller RS, Lerche H, Rubboli G. Masnada S, et al. Among authors: balestrini s. Brain. 2017 Sep 1;140(9):2337-2354. doi: 10.1093/brain/awx184. Brain. 2017. PMID: 29050392 Free 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.
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.
Safe use of perampanel in a carrier of variegate porphyria.
Balestrini S, Hart Y, Thunell S, Sisodiya SM. Balestrini S, et al. Pract Neurol. 2016 Jun;16(3):217-9. doi: 10.1136/practneurol-2015-001305. Epub 2016 Feb 2. Pract Neurol. 2016. PMID: 26837372 No abstract available.
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM. Balestrini S, et al. Neurology. 2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8. Neurology. 2016. PMID: 27281533 Free PMC article.
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J; EuroEPINOMICS-RES MAE working group; van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP. de Lange IM, et al. Among authors: balestrini s. J Med Genet. 2016 Dec;53(12):850-858. doi: 10.1136/jmedgenet-2016-103909. Epub 2016 Jun 29. J Med Genet. 2016. PMID: 27358180 Free PMC article.
Pharmacogenomics in epilepsy.
Balestrini S, Sisodiya SM. Balestrini S, et al. Neurosci Lett. 2018 Feb 22;667:27-39. doi: 10.1016/j.neulet.2017.01.014. Epub 2017 Jan 10. Neurosci Lett. 2018. PMID: 28082152 Free PMC article. Review.
Treatment of Epileptic Encephalopathies.
Balestrini S, Sisodiya SM. Balestrini S, et al. Curr Pharm Des. 2017;23(37):5667-5690. doi: 10.2174/1381612823666170809115827. Curr Pharm Des. 2017. PMID: 28799511 Review.
106 results