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
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: 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
BASE-Bielefeld Academic Search Engine
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
DOI: 10.3390/biomedicines8110456
Popis: 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 at delineating the broad clinical spectrum of PRRT2-associated phenotypes in these children and their relatives. Only a few recent larger cohort studies are on record and findings from single reports were not confirmed so far. We collected detailed genetic and phenotypic data of 40 previously unreported patients from 36 families. All patients had benign infantile epilepsy and harbored pathogenic variants in PRRT2 (core cohort). Clinical data of 62 family members were included, comprising a cohort of 102 individuals (extended cohort) with PRRT2-associated neurological disease. Additional phenotypes in the cohort of patients with benign sporadic and familial infantile epilepsy consist of movement disorders with paroxysmal kinesigenic dyskinesia in six patients, infantile-onset movement disorders in 2 of 40 individuals, and episodic ataxia after mild head trauma in one girl with bi-allelic variants in PRRT2. The same girl displayed a focal cortical dysplasia upon brain imaging. Familial hemiplegic migraine and migraine with aura were reported in nine families. A single individual developed epilepsy with continuous spikes and waves during sleep. In addition to known variants, we report the novel variant c.843G>
T, p.(Trp281Cys) that co-segregated with benign infantile epilepsy and migraine in one family. Our study highlights the variability of clinical presentations of patients harboring pathogenic PRRT2 variants and expands the associated phenotypic spectrum.
Databáze: OpenAIRE
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