DOI : 10.1055/s-00000041

Neuropediatrics

Issue S 01 · Volume 49 · April 2018 DOI: 10.1055/s-008-39857


Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics
Barcelona, Spain, 27.–28.04.2018

Abstracts (HTML) List of Authors
CO2
Pisciotta, L.; Uccella, S.; Giacomini, T.; Croci, C.; Cordani, R.; Prato, G.; Veneselli, E.; De Grandis, E.; Severino, M.S.; Mancardi, M.M.: Cask-Related Disorders: Clinical, Electroencephalographic and Neuroradiological Description of Four Genetically Confirmed Cases
CO3
Melnikova, Anastasia Martinez-Esteve; Ramirez-Camacho, Alia; Aparicio, Javier; Armstrong, Judith; Palau, Francesc; Arzimanoglou, Alexis; Campistol, Jaume; Fons, Carmen; Antonio-Arce, Victoria San: Diagnostic Exome Sequencing in Patients with Epilepsy
CO4
Russo, Angelo; Tassi, Laura; Messana, Tullio; Boni, Antonella; Santucci, Margherita; Cossu, Massimo; Toni, Francesco; Agati, Raffaele; Pini, Antonella; Gobbi, Giuseppe: Early Epilepsy Surgery in a Patient with Infantile Spasms and Focal Seizures, Due to Focal Cortical Dysplasia, and TSC2 Gene Mutation: Considerations about the Impact of Gene Mutation on the Correct Surgical Timing in the Presurgical Evaluation
CO5
Mingarelli, A.; Briola, F. La; Savini, M.; Cervi, F.; Peron, A.; Canevini, M.P.; Vignoli, A.: Early Seizure Onset in TSC: Probing for Prognostic Markers
CO6
Fons, C.; Armstrong, J.; Altafaj, X.; Olivella, M.; Garcia-Cazorla, A.: Grin1-Related Early Onset Encephalopathy: A Distinct NMDA Receptor Dysfunction
CO7
Masnada, S.; Lesca, G.; Valente, M.; Papalia, G.; Pichiecchio, A.; De Giorgis, V.; Tonduti, D.; Ville, D.; Bousquet, I.; Pasca, L.; Varesio, C.; Cereda, C.; Veggiotti, P.: Long-Term Follow-Up in Two Families with Adenylosuccinate Lyase Deficiency and Genotype: Phenotype Correlations through a Revision of Literature
CO13
Bastos, F.; Addor, M. C.; Quinodoz, M.; Royer-Bertrand, B.; Fodstad, H.; Rivolta, C.; Superti-Furga, A.; Roulet, E.; Lebon, S.: A New Neurodegenerative Disease of Childhood
CO14
Gelot, A. Bernabe; Scmitt, A.; Caillaud, C.: Skin Biopsy in Ceroid Lipofuscinosis
CO15
Molina, C.; Cortès-Saladelafont, E.; Sigatulina, M.; O'Callaghan, M.; Fons, C.; Ramirez, A.; Loreto, M.; Armstrong, J.; Antonio, V. San; Artuch, R.; Garcia-Cazorla, A.: Neurotransmitter Depletion in Early Epileptic Encephalopathies and Possible Therapeutic Options
CO16
Koch, E. Coelho De Oliviera; Ranza, Emmanuelle; de Haller, Raoul; Korff, Christian: GLUT1-DS in a Girl with Transitory Abnormal Eye Movements and Seizures Responding to Carbamazepine