Zobrazeno 1 - 10
of 493
pro vyhledávání: '"C, Dravet"'
Autor:
Nicola Specchio, Domenica Battaglia, Giovanni Chillemi, Roberta Onesimo, Maria Luigia Gambardella, Francesca Clementina Radio, Marina Trivisano, Tommaso Verdolotti, Marco Tartaglia, Michela Quintiliani, Chiara Leoni, Diego Martinelli, Stefania Veltri, Ilaria Contaldo, Giuseppe Zampino, Chiara Veredice, C. Dravet
Publikováno v:
Genes, Vol 12, Iss 1316, p 1316 (2021)
Genes
Volume 12
Issue 9
Genes
Volume 12
Issue 9
Objective: Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder caused by upregulated signaling through the RAS-mitogen-activated protein kinase (MAPK) pathway, mostly resulting from de novo activating BRAF mutations. Children with C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0118676fcd33fdb969bfc4f93a354eac
https://www.mdpi.com/2073-4425/12/9/1316
https://www.mdpi.com/2073-4425/12/9/1316
Autor:
C. Dravet
Publikováno v:
Brain Sciences, Vol 11, Iss 792, p 792 (2021)
Brain Sciences
Brain Sciences
Dear Editor [...]
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84a70cbddb9b36ee95c12a4abee55aa6
https://pubmed.ncbi.nlm.nih.gov/34208473
https://pubmed.ncbi.nlm.nih.gov/34208473
Autor:
Valentina Sibilia, Eugenio Mercuri, Francesca Darra, Renzo Guerrini, Davide Mei, Carla Marini, C. Dravet, Nicola Specchio, Tiziana Granata, Daniela Chieffo, Annarita Ferrari, Francesca Offredi, Francesco Guzzetta, Federico Vigevano, Domenica Battaglia, Maria Giuseppina Baglietto, Francesca Ragona, Simona Cappelletti, Elena Fontana, G. Prato, Mara Patrini, Simona Lucibello, Bernardo Dalla Bernardina
The objective of this study was to identify developmental trajectories of developmental/behavioral phenotypes and possibly their relationship to epilepsy and genotype by analyzing developmental and behavioral features collected prospectively and long
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::655fa48ea95d2da4b40390e31a7c2780
https://hdl.handle.net/10807/197182
https://hdl.handle.net/10807/197182
Autor:
Antonella Spinelli, C. Dravet, Domenica Battaglia, Gaetano Antonio Lanza, A. Saracino, Filippo Crea, Alessia De Nisco, Angelica Bibiana Delogu, Costantino Romagnoli
Publikováno v:
Epilepsia. 52:55-58
Dravet syndrome (DS) is an epileptic encephalopathy related mainly to mutations in the SCN1A gene, encoding for neuronal sodium channels. Patients with DS have a high risk of sudden unexpected death in epilepsy (SUDEP). In this study we investigated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4506004a0eb5fe78f7c1abcc6c8927f3
https://doi.org/10.1111/j.1528-1167.2011.03003.x
https://doi.org/10.1111/j.1528-1167.2011.03003.x
Autor:
Pinsard N, Henri Gastaut, H. Régis, Carlo Alberto Tassinari, Saint-Jean M, R. Soulayrol, R. Bernard, C. Dravet, J. Roger
Publikováno v:
Epilepsia. 7:139-179
RESUME Les auteurs fournissent la description d'une variete tres grave d‘epilepsie de l'enfant qui est rebelle a la therapeutique et qui se caracterise par la triade symptomatique suivante: (1) crises epileptiques generalisees frequentes, le plus s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::134964c88239321672acc60ea6fd1381
https://doi.org/10.1111/j.1528-1167.1966.tb06263.x
https://doi.org/10.1111/j.1528-1167.1966.tb06263.x
Autor:
Gastaut H, H. Régis, C. Dravet, Saint-Jean M, J. L. Gastaut, R. Bernard, Roger J, Nicole Pinsard
Publikováno v:
Developmental Medicine & Child Neurology. 20:21-27
SUMMARY 37 children presenting with West's syndrome were studied by computerized tomography scanning. An abnormality consisting of diffuse cerebral atrophy, predominating in the fronto-temporal region, was demonstrated in 30 cases. The abnormality wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bb336d2b34d4b59799ca6aed03e43d2
https://doi.org/10.1111/j.1469-8749.1978.tb15178.x
https://doi.org/10.1111/j.1469-8749.1978.tb15178.x
Autor:
Serena Grossi, Raffaella Mazzotti, Mirella Filocamo, C. Dravet, Renzo Guerrini, Marina Stroppiano
Publikováno v:
Epilepsia. 45:1154-1157
Summary: Purpose: Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase, is characterized by genotypic and phenotypic heterogeneity. We recently characterized the glucocerebrosidase alleles of a patient with an unusual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38dff6075345bb1850d45fdff2aec484
https://doi.org/10.1111/j.0013-9580.2004.15904.x
https://doi.org/10.1111/j.0013-9580.2004.15904.x
Publikováno v:
Neurology. 55:1106-1109
Background: Juvenile myoclonic epilepsy is a frequent form of idiopathic generalized epilepsy that is usually and easily controlled by valproate monotherapy. However, juvenile myoclonic epilepsy is often misdiagnosed, and some drugs, especially carba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::908cab04af291f133149c3d08097fbb2
https://doi.org/10.1212/wnl.55.8.1106
https://doi.org/10.1212/wnl.55.8.1106
Publikováno v:
Acta Neurologica Scandinavica. 102:188-191
Objectives– In juvenile myoclonic epilepsy (JME) neuroimaging procedures are usually unnecessary but are often performed following the first generalized tonic–clonic seizure before a specific diagnosis has been reached. Our aim was to evaluate th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::41ec423d85fbad000af4c5b28c587e24
https://doi.org/10.1034/j.1600-0404.2000.102003188.x
https://doi.org/10.1034/j.1600-0404.2000.102003188.x
Autor:
Eli M. Mizrahi, Renzo Guerrini, A Shewmon, O Robain, Catherine Chiron, F. Dreifuss, Kevin Farrell, Peter Uldall, C. Dravet, Arnaud Biraben, Federico Vigevano, Hiroshi Shibasaki, F. Andermann, Hans Holthausen, J Donat, Perrine Plouin, P. Genton, F Mauguiere, Christian Marescaux, A Tassinari, Richard Appleton, Roberto Michelucci, B Ari, Olivier Dulac, EB Menachem, P Viri, S Wallace, Bernardo Dalla Bernardina, Dieter Schmidt, C Goetz, N Bathien, John C. Rothwell, M Catala, Samuel F. Berkovic, Natalio Fejerman, Dietz Rating, Kazuyoshi Watanabe
Publikováno v:
Epilepsia. 38:1251-1254
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e87fc6af60a0de233abbafb5578a044e
https://doi.org/10.1111/j.1528-1157.1997.tb01225.x
https://doi.org/10.1111/j.1528-1157.1997.tb01225.x