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- Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes.Brain Dev. 2013; https://doi.org/10.1016/j.braindev.2013.05.009
- Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.Brain. 2011; 134: 3493-3501
- Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.J Med Genet. 2012; 49: 76-78
- Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.Neurology. 2012; 79: 46-48