Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants
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DOI: 10.1002/mds.28939
Abstract: Mutations in proline‐rich transmembrane protein 2 (PRRT2) are the major cause of paroxysmal kinesigenic dyskinesia (PKD). We recently reported transmembrane protein 151A (TMEM151A) mutations caused PKD. Herein, we aimed to conduct phenotypic comparisons of patients… read more here.
Keywords: prrt2 tmem151a; kinesigenic dyskinesia; features differ; paroxysmal kinesigenic ... See more keywords
Lacosamide for children with paroxysmal kinesigenic dyskinesia
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DOI: 10.1016/j.braindev.2020.04.009
Abstract: OBJECTIVES This study was performed to evaluate the efficacy and tolerability of lacosamide (LCM) for paroxysmal kinesigenic dyskinesia (PKD) in children. METHODS We retrospectively reviewed the medical charts of pediatric PKD patients (aged read more here.
Keywords: paroxysmal kinesigenic; family history; three children; kinesigenic dyskinesia ... See more keywords
PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum
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DOI: 10.1038/cr.2017.128
Abstract: Mutations in the proline-rich transmembrane protein 2 (PRRT2) are associated with paroxysmal kinesigenic dyskinesia (PKD) and several other paroxysmal neurological diseases, but the PRRT2 function and pathogenic mechanisms remain largely obscure. Here we show that… read more here.
Keywords: paroxysmal kinesigenic; kinesigenic dyskinesia; cerebellum; mice ... See more keywords
Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome
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DOI: 10.1212/nxg.0000000000000549
Abstract: Paroxysmal kinesigenic dyskinesia (PKD) (MIM# 128200) is a movement disorder characterized by brief episodes of involuntary movements consisting of dystonia, chorea, or myoclonus, usually triggered by sudden voluntary movements.1 Pathogenic variants in PRRT2 (MIM# 614386),… read more here.
Keywords: duplication syndrome; paroxysmal kinesigenic; chromosome 16p11; kinesigenic dyskinesia ... See more keywords
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features
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DOI: 10.1212/nxg.0000000000000659
Abstract: Background and Objectives Isolated paroxysmal kinesigenic dyskinesia (PKD) is mainly caused by PRRT2 variants and TMEM151A variants. Patients with proximal 16p11.2 microdeletion (16p11.2MD) (including PRRT2) often have neurodevelopmental phenotypes, whereas a few patients have PKD.… read more here.
Keywords: patients pkd; 16p11 2md; 16p11 microdeletion; paroxysmal kinesigenic ... See more keywords