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

Efficacy, Tolerability, and Retention of Antiseizure Medications in

Autor: Jan H, Döring, Afshin, Saffari, Thomas, Bast, Knut, Brockmann, Laura, Ehrhardt, Walid, Fazeli, Wibke G, Janzarik, Annick, Klabunde-Cherwon, Gerhard, Kluger, Hiltrud, Muhle, Manuela, Pendziwiat, Rikke S, Møller, Konrad, Platzer, Joana Larupa, Santos, Julian, Schröter, Georg F, Hoffmann, Stefan, Kölker, Steffen, Syrbe

Publikováno v: Neurology. Genetics. 8(5)

Pathogenic variants inA multicenter, retrospective, cross-sectional cohort study was conducted according to the Strengthening the Reporting of Observational Studies in Epidemiology criteria. Inclusion criteria were occurrence of infantile seizures an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::789973fc2a71de2b77e230526db52215
https://pubmed.ncbi.nlm.nih.gov/36187725

Phenotypic Spectrum of PNPT1: Interferonopathy or Not?

Autor: David Schorling, Rupleen Kaur, J. Kirschner, Matthias Eckenweiler, A. Lee-Kirsch, Sandra Donkervoort, Wibke G. Janzarik, Carsten G. Bönnemann

Publikováno v: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6355610f7d4516da368639e832ce84ba
https://doi.org/10.1055/s-0041-1739628

Spasmodic Abdominal Pain and Other Gastrointestinal Symptoms in Pontocerebellar Hypoplasia Type 2

Autor: Hans Eckart Schaefer, Wibke G. Janzarik, Miriam van Buiren, Thorsten Langer, Ingeborg Krägeloh-Mann, Patrick Gerner

Publikováno v: Neuropediatrics. 52(6)

Introduction Pontocerebellar hypoplasia type 2 (PCH2) is a rare neurodevelopmental disease with a high disease burden. Besides neurological symptoms, somatic symptoms, such as gastroesophageal reflux (GERD) and failure to thrive, are major contributo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b53b220ed4140cb0cb1ed28266739cb
https://pubmed.ncbi.nlm.nih.gov/34255333

The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood

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

Publikováno v: Döring, J H, Saffari, A, Bast, T, Brockmann, K, Ehrhardt, L, Fazeli, W, Janzarik, W G, Kluger, G, Muhle, H, Møller, R S, Platzer, K, Santos, J L, Bache, I, Bertsche, A, Bonfert, M, Borggräfe, I, Broser, P J, Datta, A N, Hammer, T B, Hartmann, H, Hasse-Wittmer, A, Henneke, M, Kühne, H, Lemke, J R, Maier, O, Matzker, E, Merkenschlager, A, Opp, J, Patzer, S, Rostasy, K, Stark, B, Strzelczyk, A, von Stülpnagel, C, Weber, Y, Wolff, M, Zirn, B, Hoffmann, G F, Kölker, S, Syrbe, S & PRRT2-Study-Group 2020, ' The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood ', Biomedicines, vol. 8, no. 11, 456, pp. 1-14 . https://doi.org/10.3390/biomedicines8110456
Biomedicines
Biomedicines, Vol 8, Iss 456, p 456 (2020)
Volume 8
Issue 11
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Döring, J H, Saffari, A, Bast, T, Brockmann, K, Ehrhardt, L, Fazeli, W, Janzarik, W G, Kluger, G, Muhle, H, Møller, R S, Platzer, K, Santos, J L, Bache, I, Bertsche, A, Bonfert, M, Borggräfe, I, Broser, P J, Datta, A N, Hammer, T B, Hartmann, H, Hasse-Wittmer, A, Henneke, M, Kühne, H, Lemke, J R, Maier, O, Matzker, E, Merkenschlager, A, Opp, J, Patzer, S, Rostasy, K, Stark, B, Strzelczyk, A, von Stülpnagel, C, Weber, Y, Wolff, M, Zirn, B, Hoffmann, G F, Kölker, S, Syrbe, S & PRRT2-Study-Group 2020, ' The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood ', Biomedicines, vol. 8, no. 11, 456 . https://doi.org/10.3390/biomedicines8110456

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://explore.openaire.eu/search/publication?articleId=doi_dedup___::886cd8b036616df0ed676ae6cdf586a2
http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/56837