Weber, AxelAxelWeberKreth, JonasJonasKrethMüller, UlrichUlrichMüller2022-11-182016-11-072022-11-182016http://nbn-resolving.de/urn:nbn:de:hebis:26-opus-123294https://jlupub.ub.uni-giessen.de/handle/jlupub/9225http://dx.doi.org/10.22029/jlupub-8613Background: 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.enNamensnennung 3.0 Internationalparoxysmal kinesigenic dyskinesia (PKD)infantile convulsions (IC)PKD/ICdystonia 10PRRT2ddc:610