A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach von Dörre, K., Olczak, M., Wada, Y., Sosicka, P., Grüneberg, M., Reunert, J., Kurlemann, G., Fiedler, B., Biskup, S., Hörtnagel, K., Rust, S., Marquardt, T.

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A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia von Rydning, S. L., Dudesek, A., Rimmele, F., Funke, C., Krüger, S., Biskup, S., Vigeland, M. D., Hjorthaug, H. S., Sejersted, Y., Tallaksen, C., Selmer, K. K., Kamm, C.

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Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine von Dichgans, Martin, Freilinger, Tobias, Eckstein, Gertrud, Babini, Elena, Lorenz-Depiereux, Bettina, Biskup, Saskia, Ferrari, Michel D, Herzog, Jürgen, van den Maagdenberg, Arn MJM, Pusch, Michael, Strom, Tim M

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Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia von Schwarz, N., Hahn, A., Bast, T., Müller, S., Löffler, H., Maljevic, S., Gaily, E., Prehl, I., Biskup, S., Joensuu, T., Lehesjoki, A.-E., Neubauer, B. A., Lerche, H., Hedrich, U. B. S.

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Neurodegenerative phenotypes in an A53T  -synuclein transgenic mouse model are independent of LRRK2 von Daher, J. P. L., Pletnikova, O., Biskup, S., Musso, A., Gellhaar, S., Galter, D., Troncoso, J. C., Lee, M. K., Dawson, T. M., Dawson, V. L., Moore, D. J.

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Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability von Gadzicki, D., Döcker, D., Schubach, M., Menzel, M., Schmorl, B., Stellmer, F., Biskup, S., Bartholdi, D.

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Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation von Nasser, F., Mulahasanovic, L., Alkhateeb, M., Biskup, S., Stingl, K., Zrenner, E.

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Combined PET/MRI: Global Warming—Summary Report of the 6th International Workshop on PET/MRI, March 27–29, 2017, Tübingen, Germany von Bailey, D. L., Pichler, B. J., Gückel, B., Antoch, G., Barthel, H., Bhujwalla, Z. M., Biskup, S., Biswal, S., Bitzer, M., Boellaard, R., Braren, R. F., Brendle, C., Brindle, K., Chiti, A., la Fougère, C., Gillies, R., Goh, V., Goyen, M., Hacker, M., Heukamp, L., Knudsen, G. M., Krackhardt, A. M., Law, I., Morris, J. C., Nikolaou, K., Nuyts, J., Ordonez, A. A., Pantel, K., Quick, H. H., Riklund, K., Sabri, O., Sattler, B., Troost, E. G. C., Zaiss, M., Zender, L., Beyer, Thomas

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Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes von Maurer, Martin H, Kohler, Anja, Hudemann, Melanie, Jüngling, Jerome, Biskup, Saskia, Menzel, Martin

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Number of predicted tumour-neoantigens as biomarker for cancer immunotherapies von Armeanu-Ebinger, S., Hadaschik, D., Kyzirakos, C., Mohr, C., Battke, F., Kohlbacher, O., Nahnsen, S., Biskup, S.

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The impact of acute tryptophan depletion on attentional performance in adult patients with ADHD von Mette, C., Zimmermann, M., Grabemann, M., Abdel-Hamid, M., Uekermann, J., Biskup, C. S., Wiltfang, J., Zepf, F. D., Kis, B.

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P44. Facial onset sensory motor neuronopathy (FOSMN) syndrome – Evidence for an oligogenic entity, though no evidence of a genetic link to ALS von Prudlo, J, Bürmann, J, Weis, J, Biskup, S, Krüger, S, Dillmann, U

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Why is it necessary to examine retina when the patient suffers from aplastic anemia? von Tomcikova, D, Gerinec, A, Busanyova, B, Gresikova, M, Biskup, S, Hortnagel, K

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GBA-associated parkinsonism and dementia: beyond [alpha]-synucleinopathies? von Pilotto, A, Schulte, C, Hauser, A K, Biskup, S, Munz, M, Brockmann, K, Schaeffer, E, Synofzik, M, Maetzler, W, Suenkel, U, Srulijes, K, Gasser, T, Berg, D

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No effect of acute tryptophan depletion on verbal declarative memory in young persons with ADHD von Zepf, F. D., Landgraf, M., Biskup, C. S., Dahmen, B., Poustka, F., Wöckel, L., Stadler, C.

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GBA-associated parkinsonism and dementia: beyond α-synucleinopathies? von Pilotto, A., Schulte, C., Hauser, A. K., Biskup, S., Munz, M., Brockmann, K., Schaeffer, E., Synofzik, M., Maetzler, W., Suenkel, U., Srulijes, K., Gasser, T., Berg, D.

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Adme-wide analysis of Copy Number Variation using Targeted exome resequencing and their functional relevance in Human Liver von Tremmel, R, Fehr, S, Battke, F, Klein, K, Schaeffeler, E, Schwab, M, Biskup, S, Zanger, U.M

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Targeted Exome Resequencing: Adme Pharmacogenetics In Human Liver von Klein, K, Fehr, S, Tremmel, R, Schaeffeler, E, Winter, S, Schwab, M, Biskup, S, Zanger, U.M

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P063 Ultra deep panel-based NGS of cancer-relevant genes as treatment decision support von Döcker, D, Menzel, M, Armeanu-Ebinger, S, Rinckleb, A, Biskup, S

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The Role of Serotonin (5-HT) in Behavioral Control: Findings from Animal Research and Clinical Implications von Sanchez, CL, Biskup, CS, Herpertz, S, Gaber, TJ, Kuhn, CM, Hood, SH, Zepf, FD

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