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Page 1
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G. Bonardi CM, et al. Among authors: reale c. Brain. 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. Brain. 2021. PMID: 34114611
Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES).
Bonardi CM, Mignot C, Serratosa JM, Giraldez BG, Moretti R, Rudolf G, Reale C, Gellert PM, Johannesen KM, Lesca G, Tassinari CA, Gardella E, Møller RS, Rubboli G. Bonardi CM, et al. Among authors: reale c. Clin Neurophysiol. 2020 May;131(5):1030-1039. doi: 10.1016/j.clinph.2020.01.020. Epub 2020 Feb 13. Clin Neurophysiol. 2020. PMID: 32197126
STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG.
Houtman SJ, Lammertse HCA, van Berkel AA, Balagura G, Gardella E, Ramautar JR, Reale C, Møller RS, Zara F, Striano P, Misra-Isrie M, van Haelst MM, Engelen M, van Zuijen TL, Mansvelder HD, Verhage M, Bruining H, Linkenkaer-Hansen K. Houtman SJ, et al. Among authors: reale c. Front Physiol. 2021 Dec 23;12:775172. doi: 10.3389/fphys.2021.775172. eCollection 2021. Front Physiol. 2021. PMID: 35002760 Free PMC article.
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Gardella E, Michelucci R, Christensen HM, Fenger CD, Reale C, Riguzzi P, Pasini E, Albini-Riccioli L, Papa V, Foschini MP, Cenacchi G, Furia F, Marjanovic D, Hammer TB, Møller RS, Rubboli G. Gardella E, et al. Among authors: reale c. Epilepsia. 2023 Aug;64(8):e170-e176. doi: 10.1111/epi.17634. Epub 2023 Jun 8. Epilepsia. 2023. PMID: 37114479
Quantitative EEG biomarkers for STXBP1-related disorders.
Cossu A, Furia F, Proietti J, Ancora C, Reale C, Darra F, Previtali R, Bernardina BD, Rubboli G, Beniczky S, Møller RS, Cantalupo G, Gardella E. Cossu A, et al. Among authors: reale c. Epilepsia. 2024 Dec;65(12):3595-3606. doi: 10.1111/epi.18154. Epub 2024 Oct 28. Epilepsia. 2024. PMID: 39463124 Free PMC article.
Terson's syndrome.
Reale C, Brigandì A, Gorgoglione N, Laganà A, Girlanda P. Reale C, et al. Pract Neurol. 2020 Apr;20(2):163-164. doi: 10.1136/practneurol-2019-002326. Epub 2019 Oct 30. Pract Neurol. 2020. PMID: 31666299 No abstract available.
Risk Model-Guided Clinical Decision Support for Suicide Screening: A Randomized Clinical Trial.
Walsh CG, Ripperger MA, Novak L, Reale C, Anders S, Spann A, Kolli J, Robinson K, Chen Q, Isaacs D, Acosta LMY, Phibbs F, Fielstein E, Wilimitis D, Musacchio Schafer K, Hilton R, Albert D, Shelton J, Stroh J, Stead WW, Johnson KB. Walsh CG, et al. Among authors: reale c. JAMA Netw Open. 2025 Jan 2;8(1):e2452371. doi: 10.1001/jamanetworkopen.2024.52371. JAMA Netw Open. 2025. PMID: 39752160 Free PMC article. Clinical Trial.
CLN6-related continuum phenotype caused by aberrant splicing.
Invernizzi F, Castellotti B, Reale C, Panteghini C, Colangelo I, Solazzi R, Ragona F, Giordano L, Galli J, Rossi Sebastiano D, Marucci G, Cuccarini V, Didato G, Gellera C, Garavaglia B, Granata T, Canafoglia L. Invernizzi F, et al. Among authors: reale c. Epilepsia Open. 2024 Dec 24. doi: 10.1002/epi4.13119. Online ahead of print. Epilepsia Open. 2024. PMID: 39718800 Free article.
128 results