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

Abstracts (HTML) List of Authors

Bach, C.

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

Bachmann, M.

Headache and Focal Status Epilepticus as Initial Symptom of POLG Mutation

Bachmann-Holzinger, I.

Feasibility and Usefulness of Rapid 2 Channel EEG Monitoring for Acute CNS Disorders in the Pediatric Emergency Ward

Baethmann, M.

Heterozygous Mutation in the KCNMA1 Gene with “Loss of Function” Phenotype in a Patient with Generalized Epilepsy

Bajer-Kornek, B.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Bak-Göcke, U.

Opsoclonus Myoclonus Syndrome: A Case Report

Ballabio, A.

LYSOPLEX: An Efficient Toolkit to Detect Sequence Variations in Genes Involved in the Lysosomal-Autophagic Pathway and Neurodegenerative Diseases

Bast, T.

Quinidine: A Targeted Drug Treatment for Patients with the Syndrome of Malignant Migrating Partial Seizures in Infancy and KCNT1 Mutation
Therapy and Clinical Course in 52 Patients with PCDH19 Mutations
Modified Atkins Diet, an Alternative Treatment of Glucose Transporter Type 1 Deficiency Syndrome

Battke, F.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy
Diagnostic Panels: A Powerful Tool to Identify the Underlying Genetic Cause in Neuromuscular Diseases

Baumann, M.

Headache and Focal Status Epilepticus as Initial Symptom of POLG Mutation

Baumgartner Sigl, S.

Headache and Focal Status Epilepticus as Initial Symptom of POLG Mutation

Beaud, N.

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

Bechtel, N.

Attention Problems in Children with Epilepsy. How is the Long-Term Outcome?
ADEM-Like Presentation as the Main Manifestation of X-Linked Lymphoproliferative Disease in a 4-Year-Old Male Patient

Beck-Wödl, S.

GM2-Activator Deficiency Mimics Tay–Sachs Disease

Beer, S.

Inclusion and Augmentative and Alternative Communication as Most Important Participation Issue
AAC as an Approach toward Language Development

Behre, S.

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

Bendszus, M.

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

Bengesser, K.

Diagnostic Panels: A Powerful Tool to Identify the Underlying Genetic Cause in Neuromuscular Diseases

Berger, T.

ADEM-Like Presentation as the Main Manifestation of X-Linked Lymphoproliferative Disease in a 4-Year-Old Male Patient

Bergmann, C.

Ciliopathies with Hepatic Involvement the Broad Phenotypical Spectrum of TMEM67 Mutations

Berner, R.

Novel Mutation in the DCK1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome as a Rare Differential Diagnosis in Primary Microcephaly, Cerebellar Hypoplasia, and Severe Developmental Delay with Progressive Bone Marrow Failure

Berweck, S.

Retrospective Analysis of Tetrahydrocannabinol Based on 31 Neurologically Critically Ill Children
Hemispheric Dissociation between Ipsilateral Motor and Contralateral Somatosensory Representation of the Paretic Hand: Deterioration of Hand Function after Hemispherotomy in a Case of Hemispheric Polymicrogyria

Betzler, C.

Retrospective Analysis of Tetrahydrocannabinol Based on 31 Neurologically Critically Ill Children
Focal Cortical Dysplasia in a Family with KCNQ3 Mutation

Bieri, O.

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

Bischof, C.

The Abusive Head Trauma: Case Report and Neurological Follow-Up

Biskup, S.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy
Somatic PIK3CA Mosaic as a Cause of Hemimegalencephaly and Congenital Infiltrating Lipomatosis of the Face
Diagnostic Panels: A Powerful Tool to Identify the Underlying Genetic Cause in Neuromuscular Diseases
Heterozygous Mutation in the KCNMA1 Gene with “Loss of Function” Phenotype in a Patient with Generalized Epilepsy
Focal Cortical Dysplasia in a Family with KCNQ3 Mutation

Blankenburg, M.

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

Blaschek, A.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Blassnig-Ezeh, A.

Spinal Cord Monitoring in Patients with SMA Type III: A Case Report

Bley, A.

Optic Atrophy in an Iron Storage Disorder Reducing Tissue Iron Load in a Child with MPAN Disease
Hypomyelination without Hypogonadotropic Hypogonadism and Hypodontia as a Variant of 4H Syndrome
Hematopoietic Stem Cell Transplantation for Late-Onset Krabbe Disease

Blumberg, J.

Fast fMRI Sequence Allows for Analysis of BOLD Responses to Single Interictal Epileptic Spikes

Blumenstein, T.

Cerebral Blood Circulation in Premature Infants by Means of Mathematical Modeling

Boelen, M.

A Comparison of Language Lateralization as Assessed using Functional MRI using Scanner-Generated versus Externally Calculated Statistical Parameter Maps

Böhm, R.

Stress And The Cortisol Diurnal Profile — Is Only “High” Critical?

Böhringer, J.

Intrafamilial Variability of Natural Disease Course in Metachromatic Leukodystrophy
GM2-Activator Deficiency Mimics Tay–Sachs Disease

Boltshauser, E.

Quality of Life 5 Years after Neonatal Arterial Ischemic Stroke: Is there an Association with Hand Motor Performance?
Corpus Callosum Anomalies in Joubert Syndrome: Low Prevalence and Weak Phenotype–Genotype Correlation
Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1
Oral-Facial-Digital Syndrome Type VI: is C5orf42 Really the Major Gene?
Cerebellar Cysts in Children: A Pattern-Recognition Approach
Brain Stem Disconnection: Two Additional Patients and Expansion of the Phenotype
Pontine Tegmental Cap Dysplasia in an Extremely Low Birth Weight Preterm Infant
Video-Documented Long-Term Follow-Up of a 10 Years' Old Girl with Severe Dyskinesia and Paroxysmal Choreoathetosis: A Variant Ataxia-Telangiectasia (A-T)

Bonati, U.

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

Borck, G.

Pontocerebellar Hypoplasia Type 9: A New Subtype

Borell, S.

Immunomodulatory Treatment of a Patient with Cross-Reactive Immunologic Material Negative Infantile Pompe Disease and Hypertrophic Cardiomyopathy
Severe Neonatal Apnea Episodes Associated with a Nondystrophic Congenital Myotonia Caused by a Mutation in the Gene SCN4A

Borggräfe, I.

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

Borusiak, P.

Never Trust a Normal MRI
EBV Encephalitis in Acute Infectious Mononucleosis
Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Botkin, N.

Cerebral Blood Circulation in Premature Infants by Means of Mathematical Modeling

Bouikidis, A.

Growth and Endocrinological Evaluation in Autosomal Recessive Proximal Spinal Muscular Atrophies Type I–III
X-Linked Myotubular Myopathy Clinical Improvement by Use of Pyridostigmine in an Infant

Brackmann, F.

Leigh-Like Course of Progressive Encephalopathy Associated with ECHS1-Mutation— A Case Report
Rare Variant of GM2 Gangliosidosis due to Activator Protein Deficiency: A Case Report

Braulke, T.

LYSOPLEX: An Efficient Toolkit to Detect Sequence Variations in Genes Involved in the Lysosomal-Autophagic Pathway and Neurodegenerative Diseases

Brecht, I.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Brenner, S.

Novel Mutation in the DCK1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome as a Rare Differential Diagnosis in Primary Microcephaly, Cerebellar Hypoplasia, and Severe Developmental Delay with Progressive Bone Marrow Failure

Brockmann, K.

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

Bromberg, J.

Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1

Brunner-Krainz, M.

Neuralgic Amyotrophy: A Rare Disease in Adolescence

Bubl, B.

Impact of Advanced MRI Imaging in Acute Stroke-Like Episodes

Budde, J.

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

Buhk, J.

Brain Stem Disconnection: Two Additional Patients and Expansion of the Phenotype

Bürger, F.

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

Buschmann, A.

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

Bussmann, C.

Genetically Misdiagnosed Duchenne: Confirmation of a Becker Muscle Dystrophy with Proof of an In-Frame Mutation with Deletion of Three Additional Exons on mRNA Level Based on Experimental cDNA Analysis

Buttmann, M.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Buyse, G.

Idebenone Reduces Loss of Respiratory Function in Duchenne Muscular Dystrophy: Outcome of a Phase III Double Blind, Randomized, Placebo-Controlled Trial