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221 results

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Page 1
Fenfluramine treatment for Dravet syndrome: Long term real-world analysis demonstrates safety and reduced health care burden.
Boncristiano A, Balestrini S, Doccini V, Specchio N, Pietrafusa N, Trivisano M, Darra F, Cossu A, Battaglia D, Quintiliani M, Gambardella ML, Parente E, Monni R, Matricardi S, Marini C, Ragona F, Granata T, Striano P, Riva A, Guerrini R. Boncristiano A, et al. Among authors: granata t. Epilepsia. 2024 Dec 30. doi: 10.1111/epi.18241. Online ahead of print. Epilepsia. 2024. PMID: 39740232
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: granata t. Epilepsia Open. 2024 Dec 24. doi: 10.1002/epi4.13119. Online ahead of print. Epilepsia Open. 2024. PMID: 39718800 Free article.
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.
Mei D, Balestrini S, Parrini E, Gambardella A, Annesi G, De Giorgis V, Gana S, Bassi MT, Zucca C, Elia M, Vetri L, Castellotti B, Ragona F, Mastrangelo M, Pisani F, d'Orsi G, Carella M, Pruna D, Giglio S, Marini C, Cesaroni E, Riva A, Scala M, Licchetta L, Minardi R, Contaldo I, Gambardella ML, Cossu A, Proietti J, Cantalupo G; LICE Collaborative Group; Trivisano M, De Dominicis A, Specchio N, Tassi L, Guerrini R. Mei D, et al. J Med Genet. 2024 Dec 31;62(1):25-31. doi: 10.1136/jmg-2024-110328. J Med Genet. 2024. PMID: 39613335 Free article.
Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.
Srour MK, Bidzimou MK, Muralidharan P, Mitchell SM, Moya-Mendez ME, Parker LE, Valenzuela GR, Caraballo R, Garone G, Vigevano F, Weckhuysen S, Millevert C, Troncoso M, Matamala M, Balestrini S, Sisodiya SM, Poole J, Zucca C, Panagiotakaki E, Papadopoulou MT, Tchaicha S, Terzi MAP, Zawadzka M, Mazurkiewicz-Bełdzińska M, Fons C, Anticona J, De Grandis E, Cordani R, Pisciotta L, Groppa S, Paryjas S, Ragona F, Mangia E, Granata T, Megvinov A, Vavassori R, Mikati MA, Landstrom AP. Srour MK, et al. Among authors: granata t. medRxiv [Preprint]. 2024 Oct 31:2024.08.31.24312446. doi: 10.1101/2024.08.31.24312446. medRxiv. 2024. PMID: 39252916 Free PMC article. Preprint.
Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach.
Castellotti B, Ragona F, Freri E, Messina G, Magri S, Previtali R, Solazzi R, Franceschetti S, Taroni F, Canafoglia L, Gellera C, Granata T, DiFrancesco JC. Castellotti B, et al. Among authors: granata t. Epilepsia Open. 2024 Oct;9(5):1922-1930. doi: 10.1002/epi4.13039. Epub 2024 Aug 31. Epilepsia Open. 2024. PMID: 39215763 Free PMC article.
Retrospective study on neonatal seizures in a tertiary center of northern Italy after ILAE classification: Incidence, seizure type, EEG and etiology.
Dilena R, Molisso MT, De Carli A, Mauri E, Circiello A, Di Benedetto A, Pisoni S, Bassi L, Bana C, Cappellari AM, Consonni D, Mastrangelo M, Granata T, La Briola F, Peruzzi C, Raviglione F, Striano P, Barbieri S, Mosca F, Fumagalli M. Dilena R, et al. Among authors: granata t. Epilepsy Behav. 2024 Oct;159:109971. doi: 10.1016/j.yebeh.2024.109971. Epub 2024 Aug 1. Epilepsy Behav. 2024. PMID: 39094245 Free article.
Early occurrence of photic-reflex myoclonus in CDKL5-deficiency disorder.
Caputo D, Franceschetti S, Canafoglia L, Iascone M, Rossi Sebastiano D, Freri E, Granata T. Caputo D, et al. Among authors: granata t. Clin Neurophysiol. 2024 Jul;163:37-38. doi: 10.1016/j.clinph.2024.04.007. Epub 2024 Apr 17. Clin Neurophysiol. 2024. PMID: 38691984 No abstract available.
221 results