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

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

doi:10.3390/biomedicines8110456

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

Jan Henje Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G Janzarik, Gerhard Kluger (Co-author), 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 HartmannAnette 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 (Co-author), Yvonne Weber, Markus Wolff, Birgit Zirn, Georg Friedrich Hoffmann, Stefan Kölker, Steffen Syrbe

Research output: Contribution to journal › Original Article (Journal) › peer-review

27 Citations (Web of Science)

Original language	English
Journal	BIOMEDICINES
Volume	8
Issue number	11
DOIs	https://doi.org/10.3390/biomedicines8110456
Publication status	Published - 2020

Keywords

PRRT2 GENE-MUTATIONS
EPISODIC ATAXIA
EPILEPSY
MIGRAINE
CONVULSIONS
DYSKINESIA
CHILDREN
SEIZURES
DISEASE

Access to Document

10.3390/biomedicines8110456

Cite this

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., ... Syrbe, S. (2020). The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood. BIOMEDICINES, 8(11). https://doi.org/10.3390/biomedicines8110456

@article{04ba47ee324c4288b36c9666e3791e81,

title = "The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.",

keywords = "PRRT2 GENE-MUTATIONS, EPISODIC ATAXIA, EPILEPSY, MIGRAINE, CONVULSIONS, DYSKINESIA, CHILDREN, SEIZURES, DISEASE",

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",

note = "Kluger: Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, 83569 Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation, PMU Salzburg, 5020 Salzburg, Austria; von St{\"u}lpnagel-Steinbeis: Epilepsy Center, University of Munich, Germany and Paracelsus Medical University Salzburg, 5020 Salzburg, Austria ",

year = "2020",

doi = "10.3390/biomedicines8110456",

language = "English",

volume = "8",

journal = "BIOMEDICINES",

issn = "2227-9059",

publisher = "MDPI",

number = "11",

}

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 2020, 'The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.', BIOMEDICINES, vol. 8, no. 11. https://doi.org/10.3390/biomedicines8110456

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

N1 - Kluger: Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, 83569 Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation, PMU Salzburg, 5020 Salzburg, Austria; von Stülpnagel-Steinbeis: Epilepsy Center, University of Munich, Germany and Paracelsus Medical University Salzburg, 5020 Salzburg, Austria

PY - 2020

Y1 - 2020

KW - PRRT2 GENE-MUTATIONS

KW - EPISODIC ATAXIA

KW - EPILEPSY

KW - MIGRAINE

KW - CONVULSIONS

KW - DYSKINESIA

KW - CHILDREN

KW - SEIZURES

KW - DISEASE

U2 - 10.3390/biomedicines8110456

DO - 10.3390/biomedicines8110456

M3 - Original Article (Journal)

C2 - 33126500

SN - 2227-9059

VL - 8

JO - BIOMEDICINES

JF - BIOMEDICINES

IS - 11

ER -