19972020

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2020

A validation study of the clinical diagnosis of Dup15q syndrome: Which symptoms matter most?

Beghi, E., Giussani, G., Bianchi, E., Randazzo, G., Sarcona, V., Elia, M., Striano, P., Verrotti, A., Ferretti, A., Rebessi, E., Specchio, N. & Bonanni, P., Jan 2020, In : Seizure. 74, p. 26-30 5 p.

Research output: Contribution to journalArticle

2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SYNAPS Study Group, Dec 1 2019, In : Nature Communications. 10, 1, 3094.

Research output: Contribution to journalArticle

Open Access

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SKABAR ALDO, 2019, In : Nature Communications. 10, 1

Research output: Contribution to journalArticle

A validation study of the clinical diagnosis of Dup15q syndrome: Which symptoms matter most?

Beghi, E., Giussani, G., Bianchi, E., Randazzo, G., Sarcona, V., Elia, M., Striano, P., Verrotti, A., Ferretti, A., Rebessi, E., Specchio, N. & Bonanni, P., Nov 23 2019, In : Seizure : the journal of the British Epilepsy Association. 74, p. 26-30 5 p.

Research output: Contribution to journalArticle

Berardinelli-Seip syndrome and progressive myoclonus epilepsy

Serino, D., Davico, C., Specchio, N., Marras, C. E. & Fioretto, F., Feb 1 2019, In : Epileptic Disorders. 21, 1, p. 117-121 5 p.

Research output: Contribution to journalArticle

De novo Absence Status Epilepticus in a pediatric cohort: Electroclinical pattern in a multicenter Italian patients cohort

Pepi, C., Cesaroni, E., Striano, P., Maiorani, D., Pruna, D., Cossu, S., Di Capua, M., Vigevano, F., Specchio, N. & Cusmai, R., Dec 1 2019, In : Seizure : the journal of the British Epilepsy Association. 73, p. 79-82 4 p.

Research output: Contribution to journalArticle

Outcome after hemispherotomy in patients with intractable epilepsy: Comparison of techniques in the Italian experience

de Palma, L., Pietrafusa, N., Gozzo, F., Barba, C., Carfi-Pavia, G., Cossu, M., De Benedictis, A., Genitori, L., Giordano, F., Russo, G. L., Marras, C. E., Pelliccia, V., Rizzi, S., Rossi-Espagnet, C., Vigevano, F., Guerrini, R., Tassi, L. & Specchio, N., Feb 16 2019, In : Epilepsy and Behavior. 93, p. 22-28 7 p.

Research output: Contribution to journalArticle

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

EIMFS Consortium, Dec 2019, In : Annals of Neurology. 86, 6, p. 821-831 11 p.

Research output: Contribution to journalArticle

Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation

Group, E. S., Barba, C., Cross, J. H., Braun, K., Cossu, M., Klotz, K. A., De Masi, S., Perez Jiménez, M. A., Gaily, E., Specchio, N., Cabral, P., Toulouse, J., Dimova, P., Battaglia, D., Freri, E., Consales, A., Cesaroni, E., Tarta-Arsene, O., Gil-Nagel, A., Mindruta, I. & 23 others, Di Gennaro, G., Giulioni, M., Tisdall, M. M., Eltze, C., Tahir, M. Z., Jansen, F., van Rijen, P., Sanders, M., Tassi, L., Francione, S., Lo Russo, G., Jacobs, J., Bast, T., Matta, G., Budke, M., Fournier Del Castillo, C., Metsahonkala, E-L., Karppinen, A., Ferreira, J. C., Minkin, K., Marras, C. E., Arzimanoglou, A. & Guerrini, R., Dec 26 2019, In : Epilepsia.

Research output: Contribution to journalArticle

2018

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

Trivisano, M., Pietrafusa, N., Terracciano, A., Marini, C., Mei, D., Darra, F., Accorsi, P., Battaglia, D., Caffi, L., Canevini, M. P., Cappelletti, S., Cesaroni, E., de Palma, L., Costa, P., Cusmai, R., Giordano, L., Ferrari, A., Freri, E., Fusco, L., Granata, T. & 20 others, Martino, T., Mastrangelo, M., Bova, S. M., Parmeggiani, L., Ragona, F., Sicca, F., Striano, P., Specchio, L. M., Tondo, I., Zambrelli, E., Zamponi, N., Zanus, C., Boniver, C., Vecchi, M., Avolio, C., Dalla Bernardina, B., Bertini, E., Guerrini, R., Vigevano, F. & Specchio, N., Dec 1 2018, In : Epilepsia. 59, 12, p. 2260-2271 12 p.

Research output: Contribution to journalArticle

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

Trivisano, M., Pietrafusa, N., Terracciano, A., Marini, C., Mei, D., Darra, F., Accorsi, P., Battaglia, D., Caffi, L., Canevini, M. P., Cappelletti, S., Cesaroni, E., de Palma, L., Costa, P., Cusmai, R., Giordano, L., Ferrari, A., Freri, E., Fusco, L., Granata, T. & 20 others, Martino, T., Mastrangelo, M., Bova, S. M., Parmeggiani, L., Ragona, F., Sicca, F., Striano, P., Specchio, L. M., Tondo, I., Zambrelli, E., Zamponi, N., Zanus, C., Boniver, C., Vecchi, M., Avolio, C., Dalla Bernardina, B., Bertini, E., Guerrini, R., Vigevano, F. & Specchio, N., Dec 2018, In : Epilepsia. 59, 12, p. 2260-2271 12 p.

Research output: Contribution to journalArticle

Defining the phenotypic spectrum of SLC6A1 mutations

Johannesen, K. M., Gardella, E., Linnankivi, T., Courage, C., de Saint Martin, A., Lehesjoki, A-E., Mignot, C., Afenjar, A., Lesca, G., Abi-Warde, M-T., Chelly, J., Piton, A., Merritt, J. L., Rodan, L. H., Tan, W-H., Bird, L. M., Nespeca, M., Gleeson, J. G., Yoo, Y., Choi, M. & 32 others, Chae, J-H., Czapansky-Beilman, D., Reichert, S. C., Pendziwiat, M., Verhoeven, J. S., Schelhaas, H. J., Devinsky, O., Christensen, J., Specchio, N., Trivisano, M., Weber, Y. G., Nava, C., Keren, B., Doummar, D., Schaefer, E., Hopkins, S., Dubbs, H., Shaw, J. E., Pisani, L., Myers, C. T., Tang, S., Tang, S., Pal, D. K., Millichap, J. J., Carvill, G. L., Helbig, K. L., Mecarelli, O., Striano, P., Helbig, I., Rubboli, G., Mefford, H. C. & Møller, R. S., Feb 2018, In : Epilepsia. 59, 2, p. 389-402 14 p.

Research output: Contribution to journalArticle

EPINETLAB: A Software for Seizure-Onset Zone Identification From Intracranial EEG Signal in Epilepsy

Quitadamo, L. R., Foley, E., Mai, R., de Palma, L., Specchio, N. & Seri, S., 2018, In : Frontiers in Neuroinformatics. 12, p. 45 15 p.

Research output: Contribution to journalArticle

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

CLN2 Study Group, May 17 2018, In : New England Journal of Medicine. 378, 20, p. 1898-1907 10 p.

Research output: Contribution to journalArticle

The phenotype of SCN8A developmental and epileptic encephalopathy

Gardella, E., Marini, C., Trivisano, M., Fitzgerald, M. P., Alber, M., Howell, K. B., Darra, F., Siliquini, S., Bölsterli, B. K., Masnada, S., Pichiecchio, A., Johannesen, K. M., Jepsen, B., Fontana, E., Anibaldi, G., Russo, S., Cogliati, F., Montomoli, M., Specchio, N., Rubboli, G. & 8 others, Veggiotti, P., Beniczky, S., Wolff, M., Helbig, I., Vigevano, F., Scheffer, I. E., Guerrini, R. & Møller, R. S., Sep 18 2018, In : Neurology. 91, 12, p. e1112-e1124

Research output: Contribution to journalArticle

The phenotype of SCN8A developmental and epileptic encephalopathy

Gardella, E., Marini, C., Trivisano, M., Fitzgerald, M. P., Alber, M., Howell, K. B., Darra, F., Siliquini, S., Bölsterli, B. K., Masnada, S., Pichiecchio, A., Johannesen, K. M., Jepsen, B., Fontana, E., Anibaldi, G., Russo, S., Cogliati, F., Montomoli, M., Specchio, N., Rubboli, G. & 8 others, Veggiotti, P., Beniczky, S., Wolff, M., Helbig, I., Vigevano, F., Scheffer, I. E., Guerrini, R. & Møller, R. S., Sep 18 2018, In : Neurology. 91, 12, p. e1112-e1124

Research output: Contribution to journalArticle

The phenotype of SCN8A developmental and epileptic encephalopathy

Gardella, E., Marini, C., Trivisano, M., Fitzgerald, M. P., Alber, M., Howell, K. B., Darra, F., Siliquini, S., Bölsterli, B. K., Masnada, S., Pichiecchio, A., Johannesen, K. M., Jepsen, B., Fontana, E., Anibaldi, G., Russo, S., Cogliati, F., Montomoli, M., Specchio, N., Rubboli, G. & 8 others, Veggiotti, P., Beniczky, S., Wolff, M., Helbig, I., Vigevano, F., Scheffer, I. E., Guerrini, R. & Møller, R. S., Sep 18 2018, In : Neurology. 91, 12, p. e1112-e1124

Research output: Contribution to journalArticle

2017

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

Cetica, V., Chiari, S., Mei, D., Parrini, E., Grisotto, L., Marini, C., Pucatti, D., Ferrari, A., Sicca, F., Specchio, N., Trivisano, M., Battaglia, D., Contaldo, I., Zamponi, N., Petrelli, C., Granata, T., Ragona, F., Avanzini, G. & Guerrini, R., Mar 14 2017, In : Neurology. 88, 11, p. 1037-1044 8 p.

Research output: Contribution to journalArticle

Epilepsy surgery of “low grade epilepsy associated neuroepithelial tumors”: A retrospective nationwide Italian study

the Commission for Epilepsy Surgery of the Italian League Against Epilepsy, Nov 1 2017, In : Epilepsia. 58, 11, p. 1832-1841 10 p.

Research output: Contribution to journalArticle

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., Afenjar, A., Chantot-Bastaraud, S., Mignot, C., Lardennois, C., Nava, C., Schwarz, N., Gérard, M., Perrin, L., Doummar, D., Auvin, S. & 30 others, Miranda, M. J., Hempel, M., Brilstra, E., Knoers, N., Verbeek, N., van Kempen, M., Braun, K. P., Mancini, G., Biskup, S., Hörtnagel, K., Döcker, M., Bast, T., Loddenkemper, T., Wong-Kisiel, L., Baumeister, F. M., Fazeli, W., Striano, P., Dilena, R., Fontana, E., Zara, F., Kurlemann, G., Klepper, J., Thoene, J. G., Arndt, D. H., Deconinck, N., Schmitt-Mechelke, T., Maier, O., Muhle, H., Trivisano, M. & Specchio, N., May 1 2017, In : Brain. 140, 5, p. 1316-1336 21 p.

Research output: Contribution to journalArticle

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., Afenjar, A., Chantot-Bastaraud, S., Mignot, C., Lardennois, C., Nava, C., Schwarz, N., Gérard, M., Perrin, L., Doummar, D., Auvin, S. & 65 others, Miranda, M. J., Hempel, M., Brilstra, E., Knoers, N., Verbeek, N., Van Kempen, M., Braun, K. P., Mancini, G., Biskup, S., Hörtnagel, K., Döcker, M., Bast, T., Loddenkemper, T., Wong-Kisiel, L., Baumeister, F. M., Fazeli, W., Striano, P., Dilena, R., Fontana, E., Zara, F., Kurlemann, G., Klepper, J., Thoene, J. G., Arndt, D. H., Deconinck, N., Schmitt-Mechelke, T., Maier, O., Muhle, H., Wical, B., Finetti, C., Brückner, R., Pietz, J., Golla, G., Jillella, D., Linnet, K. M., Charles, P., Moog, U., Õiglane-Shlik, E., Mantovani, J. F., Park, K., Deprez, M., Lederer, D., Mary, S., Scalais, E., Selim, L., Van Coster, R., Lagae, L., Nikanorova, M., Hjalgrim, H., Korenke, G. C., Trivisano, M., Specchio, N., Ceulemans, B., Dorn, T., Helbig, K. L., Hardies, K., Stamberger, H., De Jonghe, P., Weckhuysen, S., Lemke, J. R., Krägeloh-Mann, I., Helbig, I., Kluger, G., Lerche, H. & Møller, R. S., May 1 2017, In : Brain. 140, 5, p. 1316-1336 21 p.

Research output: Contribution to journalArticle

Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014

Barba, C., Specchio, N., Guerrini, R., Tassi, L., De Masi, S., Cardinale, F., Pellacani, S., De Palma, L., Battaglia, D., Tamburrini, G., Didato, G., Freri, E., Consales, A., Nozza, P., Zamponi, N., Cesaroni, E., Di Gennaro, G., Esposito, V., Giulioni, M., Tinuper, P. & 7 others, Colicchio, G., Rocchi, R., Rubboli, G., Giordano, F., Lo Russo, G., Marras, C. E. & Cossu, M., Oct 2017, In : Epilepsy and Behavior. 75, p. 151-157 7 p.

Research output: Contribution to journalArticle

Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study

Barba, C., Specchio, N., Guerrini, R., Tassi, L., De Masi, S., Cardinale, F., Pellacani, S., De Palma, L., Battaglia, D., Tamburrini, G., Didato, G., Freri, E., Consales, A., Nozza, P., Zamponi, N., Cesaroni, E., Di Gennaro, G., Esposito, V., Giulioni, M., Tinuper, P. & 7 others, Colicchio, G., Rocchi, R., Rubboli, G., Giordano, F., Lo Russo, G., Marras, C. E. & Cossu, M., Oct 2017, In : Epilepsy and Behavior. 75, p. 151-157 7 p.

Research output: Contribution to journalArticle

Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease

Specchio, N., Bellusci, M., Pietrafusa, N., Trivisano, M., de Palma, L. & Vigevano, F., Aug 1 2017, In : Epilepsia. 58, 8, p. 1380-1388 9 p.

Research output: Contribution to journalArticle

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

Niturad, C. E., Lev, D., Kalscheuer, V. M., Charzewska, A., Schubert, J., Lerman-Sagie, T., Kroes, H. Y., Oegema, R., Traverso, M., Specchio, N., Lassota, M., Chelly, J., Bennett-Back, O., Carmi, N., Koffler-Brill, T., Iacomino, M., Trivisano, M., Capovilla, G., Striano, P., Nawara, M. & 19 others, Rzoca, S., Fischer, U., Bienek, M., Jensen, C., Hu, H., Thiele, H., Altmüller, J., Krause, R., May, P., Becker, F., Balling, R., Biskup, S., Haas, S. A., Nürnberg, P., Van Gassen, K. L. I., Lerche, H., Zara, F., Maljevic, S. & Leshinsky-Silver, E., Nov 1 2017, In : Brain. 140, 11, p. 2879-2894 16 p.

Research output: Contribution to journalArticle

Reduced steroidogenesis in patients with PCDH19-female limited epilepsy

Trivisano, M., Lucchi, C., Rustichelli, C., Terracciano, A., Cusmai, R., Ubertini, G. M., Giannone, G., Bertini, E. S., Vigevano, F., Gecz, J., Biagini, G. & Specchio, N., Jun 1 2017, In : Epilepsia. 58, 6, p. e91-e95

Research output: Contribution to journalArticle

Risk factors for unprovoked epileptic seizures in multiple sclerosis:Risk factors for unprovoked epileptic seizures in multiple sclerosis: a systematic review and meta-analysis

Gasparini, S., Ferlazzo, E., Ascoli, M., Sueri, C., Cianci, V., Russo, C., Pisani, L. R., Striano, P., Elia, M., Beghi, E., Colica, C., Aguglia, U., Belcastro, V., Bianchi, A., Calabrò, S., De Falco, F., De Maria, G., Galimberti, C. A., Gambardella, A., Iudice, A. & 16 others, Labate, A., La Neve, A., Le Piane, E., Monti, F., Mumoli, L., Paladin, F., Pisani, F., Pizza, V., Provinciali, L., Sofia, V., Specchio, L. M., Specchio, N., Striano, S., Villani, F., Zaccara, G. & Society, O. B. O. T. E. S. G. O. T. I. N., Mar 1 2017, In : Neurological Sciences. 38, 3, p. 399-406 8 p.

Research output: Contribution to journalArticle

2016

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Fietz, M., AlSayed, M., Burke, D., Cohen-Pfeffer, J., Cooper, J. D., Dvořáková, L., Giugliani, R., Izzo, E., Jahnová, H., Lukacs, Z., Mole, S. E., Noher de Halac, I., Pearce, D. A., Poupetova, H., Schulz, A., Specchio, N., Xin, W. & Miller, N., Sep 1 2016, In : Molecular Genetics and Metabolism. 119, 1-2, p. 160-167 8 p.

Research output: Contribution to journalArticle

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies—An Italian observational multicenter study

De Liso, P., Vigevano, F., Specchio, N., De Palma, L., Bonanni, P., Osanni, E., Coppola, G., Parisi, P., Grosso, S., Verrotti, A., Spalice, A., Nicita, F., Zamponi, N., Siliquini, S., Giordano, L., Martelli, P., Guerrini, R., Rosati, A., Ilvento, L., Belcastro, V. & 11 others, Striano, P., Vari, M. S., Capovilla, G., Beccari, F., Bruni, O., Luchetti, A., Gobbi, G., Russo, A., Pruna, D., Tozzi, A. E. & Cusmai, R., Nov 1 2016, In : Epilepsy Research. 127, p. 93-100 8 p.

Research output: Contribution to journalArticle

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies—An Italian observational multicenter study

De Liso, P., Vigevano, F., Specchio, N., De Palma, L., Bonanni, P., Osanni, E., Coppola, G., Parisi, P., Grosso, S., Verrotti, A., Spalice, A., Nicita, F., Zamponi, N., Siliquini, S., Giordano, L., Martelli, P., Guerrini, R., Rosati, A., Ilvento, L., Belcastro, V. & 11 others, Striano, P., Vari, M. S., Capovilla, G., Beccari, F., Bruni, O., Luchetti, A., Gobbi, G., Russo, A., Pruna, D., Tozzi, A. E. & Cusmai, R., Nov 1 2016, In : Epilepsy Research. 127, p. 93-100 8 p.

Research output: Contribution to journalArticle

Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities

Matricardi, S., Spalice, A., Salpietro, V., Di Rosa, G., Balistreri, M. C., Grosso, S., Parisi, P., Elia, M., Striano, P., Accorsi, P., Cusmai, R., Specchio, N., Coppola, G., Savasta, S., Carotenuto, M., Tozzi, E., Ferrara, P., Ruggieri, M. & Verrotti, A., 2016, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities

Matricardi, S., Spalice, A., Salpietro, V., Di Rosa, G., Balistreri, M. C., Grosso, S., Parisi, P., Elia, M., Striano, P., Accorsi, P., Cusmai, R., Specchio, N., Coppola, G., Savasta, S., Carotenuto, M., Tozzi, E., Ferrara, P., Ruggieri, M. & Verrotti, A., 2016, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

2015

Acute intralesional recording in hypothalamic hamartoma: description of 4 cases

Specchio, N., Rizzi, M., Trivisano, M., Fusco, L., Rebessi, E., Cappelletti, S., De Palma, L., Villani, F., Savioli, A., De Benedictis, A., Marras, C. E., Vigevano, F. & Delalande, O., Sep 24 2015, In : Acta Neurologica Belgica. 115, 3, p. 233-239 7 p.

Research output: Contribution to journalArticle

CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures

Trivisano, M., Striano, P., Sartorelli, J., Giordano, L., Traverso, M., Accorsi, P., Cappelletti, S., Claps, D. J., Vigevano, F., Zara, F. & Specchio, N., Oct 1 2015, In : Epilepsy and Behavior. 51, p. 53-56 4 p.

Research output: Contribution to journalArticle

Claustrum damage and refractory status epilepticus following febrile illness

Meletti, S., Slonkova, J., Mareckova, I., Monti, G., Specchio, N., Hon, P., Giovannini, G., Marcian, V., Chiari, A., Krupa, P., Pietrafusa, N., Berankova, D. & Bar, M., Oct 6 2015, In : Neurology. 85, 14, p. 1224-1232 9 p.

Research output: Contribution to journalArticle

Magnetic Resonance Fiber Tracking in a Neonate with Hemimegalencephaly

Re, T. J., Scarciolla, L., Takahashi, E., Specchio, N., Bernardi, B. & Longo, D., Sep 1 2015, In : Journal of Neuroimaging. 25, 5, p. 844-847 4 p.

Research output: Contribution to journalArticle

Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures

Carvill, G. L., McMahon, J. M., Schneider, A., Zemel, M., Myers, C. T., Saykally, J., Nguyen, J., Robbiano, A., Zara, F., Specchio, N., Mecarelli, O., Smith, R. L., Leventer, R. J., Møller, R. S., Nikanorova, M., Dimova, P., Jordanova, A., Petrou, S., Helbig, I., Striano, P. & 4 others, Weckhuysen, S., Berkovic, S. F., Scheffer, I. E. & Mefford, H. C., May 7 2015, In : American Journal of Human Genetics. 96, 5, p. 808-815 8 p.

Research output: Contribution to journalArticle