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BMC Medical Genetics

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Open Access 01-12-2016 | Case report

Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family

Authors: Axel Weber, Jonas Kreth, Ulrich Müller

Published in: BMC Medical Genetics | Issue 1/2016

Abstract

Background

Mutations in PRRT2 cause autosomal dominant paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC).

Case presentation

A previously not recognized intronic PRRT2 mutation (c.880-35G > A; p.S294Lfs*29) was found in an 18 month old girl with IC and in her mother with classical presentation of PKD. The mutation results in a novel splice acceptor site in intron 2 of PRRT2. Due to frameshift and a subsequent premature stop-codon the resulting transcript appears to render the PRRT2 protein non/dysfunctional and is the likely cause of disease in this family.

Conclusion

Our findings expand the mutational spectrum of this disease.

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Title: Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family
Authors: Axel Weber
Jonas Kreth
Ulrich Müller
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2016
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/s12881-016-0281-7

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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