Journal article

Publication year: 2013

Pages: 251-253

Journal: neurogenetics

Volume number: 14

Issue number: 3-4

ISSN: 1364-6745

eISSN: 1364-6753

DOI Link: https://doi.org/10.1007/s10048-013-0376-7

Publisher: Springer

Abstract: 
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is caused by mutations in the gene PRRT2 located in 16p11.2. A deletion syndrome 16p11.2 is well established and is characterized by intellectual disability, speech delay, and autism. PKD/IC, however, is extremely rare in this syndrome. We describe a case of PKD/IC and 16p11.2 deletion syndrome and discuss modifiers of PRRT2 activity to explain the rare concurrence of both syndromes.

Harvard Citation style: Weber, A., Koehler, A., Hahn, A., Neubauer, B. and Mueller, U. (2013) Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome, neurogenetics, 14(3-4), pp. 251-253. https://doi.org/10.1007/s10048-013-0376-7

APA Citation style: Weber, A., Koehler, A., Hahn, A., Neubauer, B., & Mueller, U. (2013). Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome. neurogenetics. 14(3-4), 251-253. https://doi.org/10.1007/s10048-013-0376-7