The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Standard

The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood. / Döring, Jan Henje; Saffari, Afshin; Bast, Thomas; Brockmann, Knut; Ehrhardt, Laura; Fazeli, Walid; Janzarik, Wibke G.; Kluger, Gerhard; Muhle, Hiltrud; Møller, Rikke S.; Platzer, Konrad; Santos, Joana Larupa; Bache, Iben; Bertsche, Astrid; Bonfert, Michaela; Borggräfe, Ingo; Broser, Philip J.; Datta, Alexandre N.; Hammer, Trine Bjørg; Hartmann, Hans; Hasse-Wittmer, Anette; Henneke, Marco; Kühne, Hermann; Lemke, Johannes R.; Maier, Oliver; Matzker, Eva; Merkenschlager, Andreas; Opp, Joachim; Patzer, Steffi; Rostasy, Kevin; Stark, Birgit; Strzelczyk, Adam; von Stülpnagel, Celina; Weber, Yvonne; Wolff, Markus; Zirn, Birgit; Hoffmann, Georg Friedrich; Kölker, Stefan; Syrbe, Steffen; PRRT2-Study-Group.

I: Biomedicines, Bind 8, Nr. 11, 456, 2020, s. 1-14.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Döring, JH, Saffari, A, Bast, T, Brockmann, K, Ehrhardt, L, Fazeli, W, Janzarik, WG, Kluger, G, Muhle, H, Møller, RS, Platzer, K, Santos, JL, Bache, I, Bertsche, A, Bonfert, M, Borggräfe, I, Broser, PJ, Datta, AN, Hammer, TB, Hartmann, H, Hasse-Wittmer, A, Henneke, M, Kühne, H, Lemke, JR, 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, GF, Kölker, S, Syrbe, S & PRRT2-Study-Group 2020, 'The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood', Biomedicines, bind 8, nr. 11, 456, s. 1-14. https://doi.org/10.3390/biomedicines8110456

APA

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., ... PRRT2-Study-Group (2020). The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood. Biomedicines, 8(11), 1-14. [456]. https://doi.org/10.3390/biomedicines8110456

Vancouver

Döring JH, Saffari A, Bast T, Brockmann K, Ehrhardt L, Fazeli W o.a. The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood. Biomedicines. 2020;8(11):1-14. 456. https://doi.org/10.3390/biomedicines8110456

Author

Döring, Jan Henje ; Saffari, Afshin ; Bast, Thomas ; Brockmann, Knut ; Ehrhardt, Laura ; Fazeli, Walid ; Janzarik, Wibke G. ; Kluger, Gerhard ; Muhle, Hiltrud ; Møller, Rikke S. ; Platzer, Konrad ; Santos, Joana Larupa ; Bache, Iben ; Bertsche, Astrid ; Bonfert, Michaela ; Borggräfe, Ingo ; Broser, Philip J. ; Datta, Alexandre N. ; Hammer, Trine Bjørg ; Hartmann, Hans ; Hasse-Wittmer, Anette ; Henneke, Marco ; Kühne, Hermann ; Lemke, Johannes R. ; Maier, Oliver ; Matzker, Eva ; Merkenschlager, Andreas ; Opp, Joachim ; Patzer, Steffi ; Rostasy, Kevin ; Stark, Birgit ; Strzelczyk, Adam ; von Stülpnagel, Celina ; Weber, Yvonne ; Wolff, Markus ; Zirn, Birgit ; Hoffmann, Georg Friedrich ; Kölker, Stefan ; Syrbe, Steffen ; PRRT2-Study-Group. / The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood. I: Biomedicines. 2020 ; Bind 8, Nr. 11. s. 1-14.

Bibtex

@article{6e3fb1c831674098a7bbe41e21b59acf,
title = "The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood",
abstract = "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.",
keywords = "BFIS, Familial infantile epilepsy, Hemiplegic migraine, Phenotypic spectrum, PKD, PKD/IC, PRRT2",
author = "D{\"o}ring, {Jan Henje} and Afshin Saffari and Thomas Bast and Knut Brockmann and Laura Ehrhardt and Walid Fazeli and Janzarik, {Wibke G.} and Gerhard Kluger and Hiltrud Muhle and M{\o}ller, {Rikke S.} and Konrad Platzer and Santos, {Joana Larupa} and Iben Bache and Astrid Bertsche and Michaela Bonfert and Ingo Borggr{\"a}fe and Broser, {Philip J.} and Datta, {Alexandre N.} and Hammer, {Trine Bj{\o}rg} and Hans Hartmann and Anette Hasse-Wittmer and Marco Henneke and Hermann K{\"u}hne and Lemke, {Johannes R.} and Oliver Maier and Eva Matzker and Andreas Merkenschlager and Joachim Opp and Steffi Patzer and Kevin Rostasy and Birgit Stark and Adam Strzelczyk and {von St{\"u}lpnagel}, Celina and Yvonne Weber and Markus Wolff and Birgit Zirn and Hoffmann, {Georg Friedrich} and Stefan K{\"o}lker and Steffen Syrbe and PRRT2-Study-Group",
year = "2020",
doi = "10.3390/biomedicines8110456",
language = "English",
volume = "8",
pages = "1--14",
journal = "Biomedicines",
issn = "2227-9059",
publisher = "MDPI AG",
number = "11",

}

RIS

TY - JOUR

T1 - The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood

AU - Döring, Jan Henje

AU - Saffari, Afshin

AU - Bast, Thomas

AU - Brockmann, Knut

AU - Ehrhardt, Laura

AU - Fazeli, Walid

AU - Janzarik, Wibke G.

AU - Kluger, Gerhard

AU - Muhle, Hiltrud

AU - Møller, Rikke S.

AU - Platzer, Konrad

AU - Santos, Joana Larupa

AU - Bache, Iben

AU - Bertsche, Astrid

AU - Bonfert, Michaela

AU - Borggräfe, Ingo

AU - Broser, Philip J.

AU - Datta, Alexandre N.

AU - Hammer, Trine Bjørg

AU - Hartmann, Hans

AU - Hasse-Wittmer, Anette

AU - Henneke, Marco

AU - Kühne, Hermann

AU - Lemke, Johannes R.

AU - Maier, Oliver

AU - Matzker, Eva

AU - Merkenschlager, Andreas

AU - Opp, Joachim

AU - Patzer, Steffi

AU - Rostasy, Kevin

AU - Stark, Birgit

AU - Strzelczyk, Adam

AU - von Stülpnagel, Celina

AU - Weber, Yvonne

AU - Wolff, Markus

AU - Zirn, Birgit

AU - Hoffmann, Georg Friedrich

AU - Kölker, Stefan

AU - Syrbe, Steffen

AU - PRRT2-Study-Group

PY - 2020

Y1 - 2020

N2 - 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.

AB - 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.

KW - BFIS

KW - Familial infantile epilepsy

KW - Hemiplegic migraine

KW - Phenotypic spectrum

KW - PKD

KW - PKD/IC

KW - PRRT2

U2 - 10.3390/biomedicines8110456

DO - 10.3390/biomedicines8110456

M3 - Journal article

C2 - 33126500

AN - SCOPUS:85094604979

VL - 8

SP - 1

EP - 14

JO - Biomedicines

JF - Biomedicines

SN - 2227-9059

IS - 11

M1 - 456

ER -

ID: 251182841