DOI : 10.1055/s-00000041

Neuropediatrics

Issue S 01 · Volume 50 · March 2019 DOI: 10.1055/s-009-42716


Abstracts of the 47th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)
Paris, France, 22.–23.03.2019

Abstracts (HTML) List of Authors
CO01
Moal, L.; Rodriguez, D.; Haye, D.; Riquet, A.; Garel, C.; Ajenfar, A.; Valence, S.; Burglen, L.: Expanding the Spectrum of Poretti-Boltshauser Syndrome: 10 New Patients with LAMA1 Mutations
CO02
Heron, B.; Chakrapani, A.; Drevot, P.; Giugliani, R.; Muschol, N.; Olivier, S.; Parker, S.; Wijburg, F.: Design, Baseline Characteristics, and 2-Year Follow-up from The MPS IIIA Natural History Study Used as Control Group in Gene Therapy Trial
CO03
Trommsdorff, R.; Trommsdorff, V.: Autism Spectrum Disorder (ASD) In Reunion Island: Relationship between Social and Economic Conditions and ASD Intensity.
CO04
Charollais, A.: Langage ET Motricite DU Premature: Effet d’une Reeducation Protocolisee
CO05
Galli, J.; Gitti, F.; Lanaro, M.; Rizzi, A.; Pavlova, M.A.; Fazzi, E.: Social Cognition in Children Autism Spectrum Disorders: An Eye Tracking Study
CO06
Fazzi, E.; Galli, J.; Micheletti, S.; Rossi, A.; Molinaro, A.; Alessandrini, A.; Campostrini, E.; Fumagalli, E.; Calza, S.: Environmental Adaptation and Early Visual Training to Promote Neurodevelopment in Infants with Visual Impairment: A Pilot Study
CO07
De Lucia, S.; Renaldo, F.; Boussaid, K.; Roubertie, A.; Ntorku, A.; Samaan, S.; Kraoua, I.; Rodriguez, D.; Boespflug-Tanguy, O.: Natural History in Leukodystrophies Related to POLR3A and POLR3B Mutations: A Multicentric Survey of 21 Pediatric Cases
CO08
Mendell, J.R.; Al-Zaidy, S.; Shell, R.; Arnold, W.D.; Rodino-Klapac, L.; Prior, T.W.; Lowes, L.P.; Truncated, A.; Kaspar, B.K.: AVXS-101 Phase 1 Gene-Replacement Therapy (GRT) Clinical Trial in Spinal Muscular Atrophy Type 1 (SMA1): 24-Month Event-Free Survival and Achievement of Developmental Milestones
CO09
Bova, S.; Olivotto, S.; Tonduti, D.; Alfei, E.; Masnada, S.; Dilillo, D.; Colombo, V.; Parazzini, C.; Ferrario, S.; Bernardi, G.; Zuccotti, G.; Veggiotti, P.: Acute Flaccid Myelitis: An Emerging Disease with Several Challenges. A Retrospective Study of an Italian Cohort.
CO10
Milleret-Pignot, C.; Panagiotakaki, E.; De Bellescize, J.; Toulouse, J.; Sabatier, I.; Carneiro, M.; Ruello, C.; Nicolino, M.; Arzimanoglou, A.: Epilepsy and EEG Patterns in Children Diagnosed with Hyperinsulinism. Report of Two Cases Presented as Atypical Generalized Epilepsy and Review of EEGS of 15 Supplementary Cases.
CO11
Tonduti, D.; Fazzi, E.; Orcesi, S.; Cavallera, V.; Chiapparini, L.; De Giorgis, V.; De Simone, M.; Galli, J.; Parazzini, C.; Pichiecchio, A.; Uggetti, C.: Proposal of a New Diagnostic Score for Aicardi–Goutières Syndrome
CO12
Gras, D.; Tanguy, O. Boespflug: Evaluating the Performance of METAglut-1 in Patients Whose Clinical Presentation is Compatible with the Glucose Transporter-1 Deficiency Syndrome (GLUT-1 DS)
CO13
Cervi, F.; Vignoli, A.; Briola, F. La: New Strategies to Assess Neuropsychiatric Involvement and Improve the Outcome in Children and Adolescents with NF1 and TSC
CO14
Lacan, L.; Betrouni, N.; Lamblin, M.D.; Derambure, P.; Nguyen, S.: An Automated EEG Grading System for the Early Neonatal Brain Injury Severity Prediction Postperinatal Asphyxia
CO15
Dabbous, O.; Droege, M.; Feltner, D.E.; Novack, A.; Menier, M.; Sproule, D.M.: Early Diagnosis and Speed to Effect in Spinal Muscular Atrophy Type 1 (SMA-1)
CO16
Cabasson, S.; Villéga, F.; Van Gils, J.; Cancès, C.; Karsenty, C.; Rivera, S.; Abi-Warde, T.; Martin, A. De Saint; Pédespan, J.M.: Early-Onset Epileptic Encephalopathy Related to Germline PIGA Mutations: A Series of Four Patients
CO17
Doummar, D.; Dentel, C.; Bouilleret, V.; Dozieres-Puyravel, B.; Nasser, H.; Hirsch, E.; Mignot, C.; Rudolf, G.: Biallelic PDE2A Mutations: A New Cause of Intellectual Disability with Paroxysmal Dyskinesia and/or Epilepsy
CO18
Brunetti, S.; Rossi, A.; Galli, J.; Gitti, F.; Nardocci, N.; Giordano, L.; Accorsi, P.; Fazzi, E.: Primary and Secondary Stereotypies in Children: A Pilot Standardized Protocol and Video Analysis
CO19
Hanaoka, S.: The Treatment by Small Dose of Valproic Acid for Auditory Hypersensitivity in Autism Spectrum Disorder
CO20
Papadopoulou, M.; Panagiotakaki, E.; Rivier, C.; De Bellescize, J.; Dindault, E.; Pons, L.; Lesca, G.; Till, M.; Arzimanoglou, A.: Epilepsy in Inv Dup (15) Syndrome: Clnical and Electrophysiological Features in a Case Series of Four Patients
CO21
De Villemeur, T. Billette; Rousseau, M.C.; Baumstarck, K.; Valkov, M.; Khaldi, S.; Felce, A.; Brisse, C.; Auquier, P.: Characteristics of Polyhandicapped Patients. About a 875 Patients Cohort
CO22
Dorboz, I.; Pant, D.C.; Schluter, A.; Fourcade, S.; Rodriguez, D.; Desguerre, I.; Ville, D.; Colleaux, L.; Pujol, A.; Boespflug-Tanguy, O.: A Novel Hypomyelinating Leukodystrophy Caused by Loss of the Sphingolipid Desaturase DEGS1 with Potential Therapy
CO23
Mignot, C.; Bunod, R.; Doummar, D.; Isapof, A.; Afenjar, A.; Whalen, S.; Billette, T.; Keren, B.: Congenital Immobility and Stiffness Due to ATAD1 Biallelic Mutations: Report of Two Novel Unrelated Patients
CO24
de Feraudy, Yvan; Yaou, Rabah Ben; Wahbi, Karim; Leturcq, France; Amthor, Helge; and collaborators of the FILNEMUS network: Residual Very Low Dystrophin Levels Mitigate Dystrophinopathy towards Becker’s Muscular Dystrophy