Doering, Jan Henje, Saffari, Afshin, Bast, Thomas, Brockmann, Knut ORCID: 0000-0001-6823-9091, Ehrhardt, Laura, Fazeli, Walid ORCID: 0000-0002-9425-5535, Janzarik, Wibke G., Kluger, Gerhard, Muhle, Hiltrud, Moller, Rikke S., Platzer, Konrad, Santos, Joana Larupa, Bache, Iben ORCID: 0000-0001-7562-8546, Bertsche, Astrid, Bonfert, Michaela, Borggraefe, Ingo, Broser, Philip J., Datta, Alexandre N., Hammer, Trine Bjorg, Hartmann, Hans, Hasse-Wittmer, Anette, Henneke, Marco, Kuehne, Hermann, Lemke, Johannes R., Maier, Oliver, Matzker, Eva, Merkenschlager, Andreas, Opp, Joachim, Patzer, Steffi, Rostasy, Kevin, Stark, Birgit, Strzelczyk, Adam, von Stuelpnagel, Celina, Weber, Yvonne, Wolff, Markus, Zirn, Birgit, Hoffmann, Georg Friedrich, Koelker, Stefan and Syrbe, Steffen (2020). The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood. Biomedicines, 8 (11). BASEL: MDPI. ISSN 2227-9059

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Doering, Jan HenjeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Saffari, AfshinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bast, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brockmann, KnutUNSPECIFIEDorcid.org/0000-0001-6823-9091UNSPECIFIED
Ehrhardt, LauraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fazeli, WalidUNSPECIFIEDorcid.org/0000-0002-9425-5535UNSPECIFIED
Janzarik, Wibke G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kluger, GerhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muhle, HiltrudUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moller, Rikke S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Platzer, KonradUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Santos, Joana LarupaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bache, IbenUNSPECIFIEDorcid.org/0000-0001-7562-8546UNSPECIFIED
Bertsche, AstridUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bonfert, MichaelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Borggraefe, IngoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Broser, Philip J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Datta, Alexandre N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hammer, Trine BjorgUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hartmann, HansUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hasse-Wittmer, AnetteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Henneke, MarcoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kuehne, HermannUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lemke, Johannes R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Maier, OliverUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Matzker, EvaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Merkenschlager, AndreasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Opp, JoachimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Patzer, SteffiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rostasy, KevinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stark, BirgitUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Strzelczyk, AdamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
von Stuelpnagel, CelinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weber, YvonneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wolff, MarkusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zirn, BirgitUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoffmann, Georg FriedrichUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koelker, StefanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Syrbe, SteffenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-313080
DOI: 10.3390/biomedicines8110456
Journal or Publication Title: Biomedicines
Volume: 8
Number: 11
Date: 2020
Publisher: MDPI
Place of Publication: BASEL
ISSN: 2227-9059
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
PRRT2 GENE-MUTATIONS; EPISODIC ATAXIA; EPILEPSY; MIGRAINE; CONVULSIONS; DYSKINESIA; CHILDREN; SEIZURES; DISEASEMultiple languages
Medicine, Research & Experimental; Pharmacology & PharmacyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/31308

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