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Brain(1)
Clinical Neurophysiology Practice(1)
Epilepsia(1)
Epilepsy and Behavior(1)
Genetics in Medicine(1)
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Fisiología humana(2)
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scopus(6)
Climate change and epilepsy: Insights from clinical and basic science studies
ReviewAbstract: Climate change is with us. As professionals who place value on evidence-based practice, climate chanPalabras claves:emergency, Extreme weather events, Global warming, PUBLIC HEALTH, Seizure, TEMPERATUREAutores:Balestrini S., Bartolini E., Berkovic S.F., Blenkinsop S., Cavalleri G., Correa D.J., De Palma L., Diego Jiménez-Jiménez, Foley A., Fowler H.J., Galovic M., Guerrini R., Gulcebi M.I., Henshall D., Hildebrand M.S., Howard O., Hughes K., Junck L., Katsarou A., Koeleman B.P.C., Krause R., Lee O., Lewis-Smith D., Lisgaras C.P., Lowenstein D., Mandelenaki D., Marini C., Martins Custodio H., Mifsud J., O'Brien T.J., Onat F., Pace A., Perucca P., Pitkänen A., Quinn F., Scheffer I.E., Selmer K.K., Sisodiya S.M., Steward C.A., Striano P., Swanborough N., Thijs R., Thijs R.D., Tittensor P., Trivisano M., Vezzani A., Weckhuysen S., Zara F., Zuberi S.M.Fuentes:scopusDelineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
ArticleAbstract: Purpose: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disoPalabras claves:Autores:Alders M., Allen N.M., Arold S.T., Banka S., Banu S.H., Baptista J., Barakat T.S., Barge-Schaapveld D.Q.C.M., Baud R., Braddock S.R., Cardona-Londoño K.J., Chinn I.K., Crunk A., de Vries B.B.A., Deardorff M.A., Efthymiou S., Elloumi H.Z., Elting M.W., Galehdari H., Garza-Flores A., Gilissen C., Guerrini R., Guzmán-Vega F.J., Haghshenas S., Hamm J.A., Harrison V., Houlden H., Huang S., Jackson A., Järvelä I., Jewett T., Kehoe C.M., Keller-Ramey J., Kerkhof J., Kievit A., Klemp K.C., Koboldt D.C., Koning S., Lanko K., Lauronen L., Leal S.M., Lees M., Lin X., Luis Alberto Pedroza, Lupski J.R., Lynch S.A., Määttä T., Maroofian R., Mazaheri N., McBride K.L., McConkey H., McGlothlin J., Merritt J.L., Mirzaa G.M., Mohammed S., Monaghan K.G., Montomoli M., Mosher T.M., Pan Z., Pang L., Pastore M.T., Peeters-Scholte C.M.P.C.D., Peña-Guerra K.A., Peng J., Person R.E., Pfundt R., Polstra A.M., Putnam A.M., Quindipan C., Ramakrishnan R., Reich A., Robinson H.K., Rosso G., Ruivenkamp C.A.L., Ruzhnikov M.R.Z., Sadikovic B., Scheck J., Schenck L., Schrauwen I., Sisodiya S.M., Sun A., Thies J., Timms A.E., Turnpenny P.D., van Bever Y., van Gijn M.E., van Paassen B.W., van Slegtenhorst M., Vansenne F., Vetro A., Walsh L., Wang X., Weerts M.J.A., Willemsen M., Yana Lara-Taranchenko, Yang L., Zaman M.Fuentes:scopusCHD2 variants are a risk factor for photosensitivity in epilepsy
ArticleAbstract: Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as partiPalabras claves:Eyelid myoclonia with absences, Photosensitive, SeizureAutores:Afrikanova T., Berkovic S.F., Boustred C., Cantonetti L., Capovilla G., Chinthapalli V.K., Coppola A., Covanis A., Crawford A.D., De Kovel C.G.F., Del Gaudio L., Drury S., Esguerra C.V., Galizia E.C., Helbig I., Jacmin M., Jocic-Jakubi B., Koeleman B.P.C., Krause R., Lehesjoki A.E., Lench N., Lerche H., Leu C., María Lorena Cordero-Maldonado, Martins T.G., Mefford H.C., Moller R.S., Muhle H., Mullen S.A., Myers C.T., Nürnberg P., Palotie A., Parisi P., Pendziwiat M., Piccioli M., Ruppert A.K., Sadleir L.G., Sander T., Scheffer I.E., Schneider A.L., Schubert J., Sisodiya S.M., Stephani U., Striano S., Thiele H., Trenité D.G.A.K.N., Veggiotti P.Fuentes:scopusNon-Stationary Outcome of Alternating Hemiplegia of Childhood into Adulthood
ArticleAbstract: Background: Although described as non-progressive, alternating hemiplegia of childhood (AHC) can disPalabras claves:Autores:Balestrini S., Battaglia D., D'Ambrosio S., Di Lazzaro G., Diego Jiménez-Jiménez, Perulli M., Poole J., Silvennoinen K., Sisodiya S.M., Zagaglia S.Fuentes:scopusShort- and long-interval intracortical inhibition in EPM1 is related to genotype
ArticleAbstract: Objective: Progressive myoclonic epilepsy type 1 (EPM1) is caused by biallelic alterations in the CSPalabras claves:LICI, progressive myoclonic epilepsy, SICI, transcranial magnetic stimulation, Unverricht-Lundborg diseaseAutores:Balestrini S., D'Ambrosio S., Diego Jiménez-Jiménez, Hyppönen J., Julkunen P., Kälviäinen R., Karjalainen P.A., Mervaala E., Rissanen S.M., Rothwell J.C., Säisänen L., Silvennoinen K., Sisodiya S.M., Zagaglia S.Fuentes:scopusThe impact of Transcranial Magnetic Stimulation (TMS) on seizure course in people with and without epilepsy
ArticleAbstract: Objective: To elucidate the effects of single and paired-pulse TMS on seizure activity at electrograPalabras claves:Alternating hemiplegia of childhood, Paired pulse, safety, Single pulse, TMSAutores:Balestrini S., Battaglia G., D'Ambrosio S., Diego Jiménez-Jiménez, Pang S., Perulli M., Silvennoinen K., Sisodiya S.M., Zagaglia S.Fuentes:scopus