Session Information
Date: Thursday, June 8, 2017
Session Title: Pediatric Movement Disorders
Session Time: 1:15pm-2:45pm
Location: Exhibit Hall C
Objective: To describe an atypical case of paroxysmal kinesigenic dyskinesia (PKD) due to a novel PRRT2 mutation.
Background: PRRT2 gene mutations have been reported in a variety of neurological disorders including PKD, benign familial infantile epilepsy, absence epilepsy and migraine. PKD typically responds readily to anticonvulsants.
Methods: Case Report
Results: Our patient, a 7 year old female, developed symptoms of paroxysmal kinesigenic dyskinesia (PKD) at 1 year of age. Multiple medications were trialed including carbamazepine, oxcarbazepine, gabapentin, lamotrigine, levetiracetam, ethosuximide, acetazolamide, levodopa/carbidopa and tetrabenazine. Only tetrabenazine provided partial improvement in symptoms. She was found to carry a novel E16G mutation in the PRRT2 gene.
Conclusions: This case may represent a genotype/phenotype correlation in the PRRT2 with the E16G mutation resulting in medically refractory PKD.
To cite this abstract in AMA style:
K. Chillag, E. Chillag. Medically refractory paroxysmal kinesigenic dyskinesia in a 7 year old with a novel PRRT2 mutation [abstract]. Mov Disord. 2017; 32 (suppl 2). https://www.mdsabstracts.org/abstract/medically-refractory-paroxysmal-kinesigenic-dyskinesia-in-a-7-year-old-with-a-novel-prrt2-mutation/. Accessed August 15, 2025.« Back to 2017 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/medically-refractory-paroxysmal-kinesigenic-dyskinesia-in-a-7-year-old-with-a-novel-prrt2-mutation/