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Page 1
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Musto E, Liao VWY, Johannesen KM, Fenger CD, Lederer D, Kothur K, Fisk K, Bennetts B, Vrielynck P, Delaby D, Ceulemans B, Weckhuysen S, Sparber P, Bouman A, Ardern-Holmes S, Troedson C, Battaglia DI, Goel H, Feyma T, Bakhtiari S, Tjoa L, Boxill M, Demina N, Shchagina O, Dadali E, Kruer M, Cantalupo G, Contaldo I, Polster T, Isidor B, Bova SM, Fazeli W, Wouters L, Miranda MJ, Darra F, Pede E, Le Duc D, Jamra RA, Küry S, Proietti J, McSweeney N, Brokamp E, Andrews PI, Gouray Garcia M, Chebib M, Møller RS, Ahring PK, Gardella E. Musto E, et al. Among authors: proietti j. Ann Neurol. 2023 Aug 22. doi: 10.1002/ana.26774. Online ahead of print. Ann Neurol. 2023. PMID: 37606373
Epilepsy features in ARID1B-related Coffin-Siris syndrome.
Proietti J, Amadori E, Striano P, Ricci E, Cordelli DM, Bana C, Dilena R, Gardella E, Klint Nielsen JE, Pisani F, Lo Barco T, Fiorini E, Fontana E, Darra F, Dalla Bernardina B, Cantalupo G. Proietti J, et al. Epileptic Disord. 2021 Dec 1;23(6):865-874. doi: 10.1684/epd.2021.1356. Epileptic Disord. 2021. PMID: 34730517
Adaptive behaviour in adolescents and adults with Dravet syndrome.
Lo Barco T, Offredi F, Castino E, Proietti J, Cossu A, Fiorini E, Fontana E, Cantalupo G, Dalla Bernardina B, Darra F. Lo Barco T, et al. Among authors: proietti j. Dev Med Child Neurol. 2023 Jun;65(6):838-846. doi: 10.1111/dmcn.15448. Epub 2022 Oct 31. Dev Med Child Neurol. 2023. PMID: 36316303
Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey.
Cossu A, Lo Barco T, Proietti J, Dalla Bernardina B, Cantalupo G, Ghobert L, Brambilla I, Giarola E, Costa A, De Benito T, Bethge S, Cardot S, Montwill I, Remonato E, Gramaglia S, Darra F. Cossu A, et al. Among authors: proietti j. Epilepsy Behav. 2023 May;142:109153. doi: 10.1016/j.yebeh.2023.109153. Epub 2023 Mar 28. Epilepsy Behav. 2023. PMID: 36989566 Free article.
Gelastic seizures and "smiling spasms": A peculiar ictal pattern.
Lo Barco T, Corona L, Solazzi R, Fiorini E, Galati G, Cossu A, Proietti J, Francione S, Dalla Bernardina B, Darra F, Cantalupo G. Lo Barco T, et al. Among authors: proietti j. Epileptic Disord. 2023 Apr;25(2):269-273. doi: 10.1002/epd2.20012. Epub 2023 May 16. Epileptic Disord. 2023. PMID: 37194193 No abstract available.
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
Specchio N, Trivisano M, Lenge M, Ferretti A, Mei D, Parrini E, Napolitano A, Rossi-Espagnet C, Talenti G, Longo D, Proietti J, Ragona F, Freri E, Solazzi R, Granata T, Darra F, Bernardina BD, Vigevano F, Guerrini R. Specchio N, et al. Among authors: proietti j. Cereb Cortex. 2023 Aug 23;33(17):9709-9717. doi: 10.1093/cercor/bhad235. Cereb Cortex. 2023. PMID: 37429835 Free PMC article.
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