Abstracts of the 41st Annual Meeting of the Society of Neuropediatrics

Abstracts (HTML) List of Authors

Raile, V.

Pontine Tegmental Cap Dysplasia in an Extremely Low Birth Weight Preterm Infant

Ramelli, G.

High Prevalence of Pathologic Copy Number Variations Detected by Array Comparative Genomic Hybridization in Children with Autism Spectrum Disorders: The Experience of Southern Switzerland
Quality of Life 5 Years after Neonatal Arterial Ischemic Stroke: Is there an Association with Hand Motor Performance?
Arrested Hydrocephalus in Children: Report of Five Consecutive Cases and Comprehensive Review of the Literature

Rating, D.

Quinidine: A Targeted Drug Treatment for Patients with the Syndrome of Malignant Migrating Partial Seizures in Infancy and KCNT1 Mutation

Rauch, A.

A Novel Plasma Biomarker for Snyder Robinson Syndrome (X-Linked Spermine Synthase Deficiency)

Rautenstrauss, B.

Novel Mutation in the Inverted Formin 2 Gene in a Family with Hereditary Motor and Sensory Neuropathy, and Nephropathy

Reha, A.

Design of a Confirmatory Phase 3, Multicenter, Randomized, Double Blind, Placebo-Controlled Study (ACT DMD) of Ataluren in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

Rehm, D.

Acute Hemiparesis Revealing Neuroborreliosis in a 3-Year-Old Boy

Reich, B.

Somatic PIK3CA Mosaic as a Cause of Hemimegalencephaly and Congenital Infiltrating Lipomatosis of the Face

Reichardt, H.

Bone Marrow Transplantation in a Mouse Model for Rett Syndrome

Reichardt, S.

Bone Marrow Transplantation in a Mouse Model for Rett Syndrome

Reicherter, K.

Developmental Profile of 3-Year-Old Girl with Atypical Rett Syndrome with Detection of a Currently Unpublished Mutation in the MECP2 Gen
Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Reihle, C.

MERS: Mild Encephalopathy/Encephalitis with Reversible Lesions in the Splenium Another Three Cases
Manganese Storage Disease as a Rare Cause of Dystonia with Bilateral Changes in Basal Ganglia and Polycythemia
Longitudinally Extensive Transverse Myelitis in Four Children

Rettig, O.

The Objective Measurement of Diadochokinesis in Children with Bilateral Spastic Cerebral Palsy

Reuner, G.

Juvenile Scleroderma with Isolated CNS Manifestations: Difficulties in Diagnosis and Possible Treatment Plans
German Version and Standardization of the Bayley Scales of Infant and Toddler Development, 3rd Edition: First Results on Clinical Validity and Criteria Validity of the Cognitive Scale and Language Scale

Reutlinger, C.

Cerebral Palsy and Breathing: More than Prophylaxis of Pneumonia
Opsoclonus Myoclonus Syndrome: A Case Report

Ries, M.

Neurological Multicenter Clinical Research in Vulnerable Populations: Variability in Institutional Review Boards' Responses

Riesch, E.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Rieß, A.

Genotype and Phenotype in 34 Families with Genetically Confirmed Walker-Warburg Syndrome or Muscle Eye Brain Disease

Rödl, T.

Genotype and Phenotype in 34 Families with Genetically Confirmed Walker-Warburg Syndrome or Muscle Eye Brain Disease

Rolfs, A.

Manganese Storage Disease as a Rare Cause of Dystonia with Bilateral Changes in Basal Ganglia and Polycythemia

Romani, M.

Corpus Callosum Anomalies in Joubert Syndrome: Low Prevalence and Weak Phenotype–Genotype Correlation
Oral-Facial-Digital Syndrome Type VI: is C5orf42 Really the Major Gene?

Rosenbaum, T.

Nevus Anemicus as Indication of Neurofibromatosis Type 1 in Childhood

Rosenkranz, J.

German Version and Standardization of the Bayley Scales of Infant and Toddler Development, 3rd Edition: First Results on Clinical Validity and Criteria Validity of the Cognitive Scale and Language Scale

Ross, S.

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Rossegg, U.

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Rostasy, K.

ADEM-Like Presentation as the Main Manifestation of X-Linked Lymphoproliferative Disease in a 4-Year-Old Male Patient
Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study
Headache and Focal Status Epilepticus as Initial Symptom of POLG Mutation

Röthlisberger, B.

Old Drug, New Mutation in Neonatal Epileptic Encephalopathies

Ruf, S.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Russ, A.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Rutz, E.

Improved Muscle Function in Duchenne Muscular Dystrophy using a Combination of L-Arginine and Metformin