The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

Autor: Jan Henje Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G. Janzarik, Gerhard Kluger, Hiltrud Muhle, Rikke S. Møller, Konrad Platzer, Joana Larupa Santos, Iben Bache, Astrid Bertsche, Michaela Bonfert, Ingo Borggräfe, Philip J. Broser, Alexandre N. Datta, Trine Bjørg Hammer, Hans Hartmann, Anette Hasse-Wittmer, Marco Henneke, Hermann Kühne, Johannes R. Lemke, Oliver Maier, Eva Matzker, Andreas Merkenschlager, Joachim Opp, Steffi Patzer, Kevin Rostasy, Birgit Stark, Adam Strzelczyk, Celina von Stülpnagel, Yvonne Weber, Markus Wolff, Birgit Zirn, Georg Friedrich Hoffmann, Stefan Kölker, Steffen Syrbe

Publikováno v: Biomedicines, Vol 8, Iss 11, p 456 (2020)

Pathogenic variants in PRRT2, encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic disorders. Based on a cohort of children with PRRT2-related infantile epilepsy, this study aimed

Externí odkaz: https://doaj.org/article/eb6e214b3abb422dac7278efdec1bac7

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

Autor: Tobias Bartolomaeus, Alejandro Leal, Katharina Schoner, Ilona Krey, Rami Abou Jamra, Luis Bermúdez-Guzmán, Steffen Syrbe, Helga Rehder, Susanna Schubert, Christian Roth, Sonja Neuser, Annemarie Schwan, Margit Plassmann, Maximilian Radtke, Diana Le Duc, Stefan Rohde, Bernt Popp, Jan Henje Döring

Publikováno v: European Journal of Human Genetics

Biallelic PNKP variants cause heterogeneous disorders ranging from neurodevelopmental disorder with microcephaly/seizures to adult-onset Charcot–Marie–Tooth disease. To date, only postnatal descriptions exist. We present the first prenatal diagno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::186f10532342877c5874b9df609f229b
https://doi.org/10.1038/s41431-021-00982-y

Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS)

Autor: Ulrike Mütze, Steffen Syrbe, Gitta Reuner, Stefan Kölker, Thomas Bast, Georg F. Hoffmann, Doreen Balke, Susanne Schubert-Bast, Annick Klabunde-Cherwon, Elisabeth Schuler, Jan Henje Döring, Benedikt Sonnek

Publikováno v: European Journal of Paediatric Neurology. 30:121-127

Objective Continuous spikes and waves during sleep (CSWS) is an epileptic encephalopathy characterized by generalised epileptiform activity and neurocognitive dysfunction. Causes and outcome are diverse and treatment is mainly empirical. Methods Retr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e26aeb0bc1308dc72a1e4576aac202f
https://doi.org/10.1016/j.ejpn.2020.10.010

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies

Autor: Steffen Syrbe, Michael Parker, Georg F. Hoffmann, Julian Schröter, Emilia K. Bijlsma, Deb K. Pal, Bernt Popp, Dagmar Huhle, L. Jestaedt, Stefan Kölker, A. van Haeringen, Heiko Brennenstuhl, Sonja Neuser, Johannes R. Lemke, S. H. Donze, Andreas Merkenschlager, Jan Henje Döring, D. Gräfe, Inga Harting, Stephanie Oates, Maria Arelin

Publikováno v: European Journal of Human Genetics, 30(3), 298-306. SPRINGERNATURE

TUBA1A tubulinopathy is a rare neurodevelopmental disorder associated with brain malformations as well as early-onset and intractable epilepsy. As pathomechanisms and genotype-phenotype correlations are not completely understood, we aimed to provide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b243d139198b07cdf975bdb43e5fdad4
https://pubmed.ncbi.nlm.nih.gov/35017693

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

Autor: Julian Schröter, Georg F. Hoffmann, G. Christoph Korenke, Stefan Kölker, Jerome Jüngling, Heiko Brennenstuhl, Rikke S. Møller, Sophie Christoph, Tobias Dietel, Kerstin Alexandra Klotz, Thomas Bast, Guido Rubboli, Saskia Biskup, Yves Chaix, Jan Henje Döring, Steffen Syrbe, Johannes R. Lemke, Gaetan Lesca

Publikováno v: Döring, J H, Schröter, J, Jüngling, J, Biskup, S, Klotz, K A, Bast, T, Dietel, T, Korenke, G C, Christoph, S, Brennenstuhl, H, Rubboli, G, Møller, R S, Lesca, G, Chaix, Y, Kölker, S, Hoffmann, G F, Lemke, J R & Syrbe, S 2021, ' Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders ', International Journal of Molecular Sciences, vol. 22, no. 6, 2824 . https://doi.org/10.3390/ijms22062824
International Journal of Molecular Sciences, Vol 22, Iss 2824, p 2824 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 6

Pathogenic variants in KCNA2, encoding for the voltage-gated potassium channel Kv1.2, have been identified as the cause for an evolving spectrum of neurological disorders. Affected individuals show early-onset developmental and epileptic encephalopat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0a88107a1672861e1b973a06d0d2647
https://findresearcher.sdu.dk:8443/ws/files/181690066/Open_Access_Version.pdf