DOI : 10.1055/s-00000041

Neuropediatrics

Issue S 02 · Volume 49 · October 2018 DOI: 10.1055/s-008-41768


Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics
Berlin, 30.10 – 03.11.2018

Chair: Prof. Dr. Volker Mall, Department of Pediatrics, University Hospital, Technical University Munich
Abstracts (HTML) List of Authors
P233
Rüsch, Christina; Wortmann, Saskia B.; Kovacs-Nagy, Reka; Grehten, Patrice; Häberle, Johannes; Latal, Bea; Stettner, Georg: P 233. Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder
P295
Toelle, Sandra; Geiger, Julia; Boltshauser, Eugen: P 295. Everolimus Trial for a Patient with Bannayan–Riley–Ruvalcaba’s Syndrome and Progressive Lipomatosis
P308
Sánchez-Albisua, Iciar; Brämswig, Nuria; Marina, Adela Della; Kölbel, Heike; Rupprich, Katrin; Küchler, Alma; Strom, Tim M.; Luedecke, Hermann Josef; Wieczorek, Dagmar; Schara, Ulrike: P 308. Autosomal Recessive Mutations in the NALCN Gene: A Rare Cause of a Severe Developmental Disorder with Facial Dysmorphia, Epilepsy and Cheyne–Stokes/Biot’s Respiration with Central Apneas
P328
Buelow, Markus; Süßmut, David; Köhler, Jutta; Gill, Esther; Smith, Laurie D.; Schuelke, Markus; Knierim, Ellen: P 328. Novel Homozygous Variants Confirm SPTBN4-Related Congenital Myopathy and Expand the Clinical Phenotype
P334
Drenckhahn, Anne; Schülke-Gerstenfeld, Markus; Knieriem, Ellen: P 334. Severe Leigh-like Phenotype in an Girl with Homozygous p.Q139* Mutation in C12orf65
P366
Coci, Emanuele; Husain, Ralf; Marquardt, Iris; Fink, Christian; Liehr, Thomas; Serino, Domenico; Elia, Maurizio; Castiglia, Lucia: P 366. 7q11.23 Microduplication Syndrome: Neurophysiological and Neuroradiological Insights into a Rare Chromosomal Disorder
P694
Brösse, Ines; Kaiser, Ann-Sophie; Hoffmann, Georg Friedrich; Kölker, Stefan: P 694. TRIP12 Variants as a Cause of Mental Disability with or without Autism
P705
Saffari, Afshin; Kölker, Stefan; Merkenschlager, Andreas; Hoffmann, Georg Friedrich; Ziegler, Andreas; Syrbe, Steffen: P 705. Axenfeld-Rieger Anomaly and Neuropsychiatric Symptoms
P781
Zielonka, Matthias; Garbade, Sven; Kölker, Stefan; Hoffmann, Georg Friedrich; Ries, Markus: P 781. A Cross-sectional Quantitative Analysis of the Natural History of Farber Disease: An Ultra-Orphan Condition with Rheumatologic and Neurological Cardinal Disease Features
P856
Jensen, Beate; Althaus, Jürgen; Fiedler, Barbara; Kurlemann, Gerhard; Niederstadt, Thomas; Penning, Jeff; Biskup, Saskia; Hörtnagel, Konstanze; Schwartz, Oliver: P 856. Andermann’s Syndrome—Symptom Complex of Agenesis of the Corpus Callosum and Motor–Sensory Neuropathy
P913
Vill, Katharina; Müller-Felber, Wolfgang; Blaschek, Astrid; Schröder, Sebastian; Gläser, Dieter; Kuhn, Marius; Meitinger, Thomas; Wagner, Matias: P 913. Heterozygous Nonsense Variant in the TCF20 Gene as a Cause of Congenital Myopathy
P916
Dehmel, Maria; Hahn, Gabriele; Brenner, Sebastian; Walsh, Sonja; Didonato, Nataliya; von der Hagen, Maja: P 916. Lissencephaly and Prolonged Survival of a Male Infant with MICPCH and a Noval Mutation in the CASK Gene, Xp11.4
P1001
Bamborschke, Daniel; Pergande, Matthias; Daimagüler, Hülya-Secan; Mangold, Elisabeth; Dötsch, Jörg; Herkenrath, Peter; Cirak, Sebahatin; Fazeli, Walid: P 1001. A Pathogenic GABRB3 Variant Is Associated with Cleft Palate in a Patient with Epileptic Encephalopathy
P1008
Mammadova, Dilbar; Osinski, Daniela; Zweier, Christiane; Trollmann, Regina; Schulz-Heise, Susanne: P 1008. Neuronal Migration Disorders in Infants with 22q11.2 Deletion Syndrome—Two Case Reports
P1081
Steinbrücker, Katja; Osinski, Daniela; Leis, Thomas; Abicht, Angela; Rompel, Oliver; Trollmann, Regina: P 1081. PTEN-Associated Macrocephaly in a 3-Year-Old Girl
P1086
Picker-Minh, Sylvie; Luperi, Ilaria; John, Magdalena; Hu, Hao; Hernandez-Miranda, Luis Rodrigo; Zaqout, Sami; Fassbender, Jessica; Krämer, Nadine; Kaindl, Angela M.: P 1086. Role of PTRH2 in Cerebellar Development
P1155
Ungerath, Kristina; Lischetzki, Grischa; Schipper, Birgit; Beck-Wödl, Stefanie: P 1155. Focal Epilepsy Difficult to Treat in Hermann–Pallister’s Syndrome (KBG Syndrome)
P1162
Döring, Jan Henje; Jacobs-Le Van, Julia; Bast, Thomas; Hoffmann, Georg Friedrich; Kölker, Stefan; Donkels, Catharina; Lemke, Johannes; Haas, Carola A.; Jones, David; Pfister, Stefan; Syrbe, Steffen: P 1162. Somatic Mosaics in Epileptogenic Tissue—Background and Therapeutic Implications of Molecular Changes in Structural Epilepsies