Proline-rich Transmembrane Protein 2 Gene Mutation in a Sporadic Paroxysmal Kinesigenic Dyskinesia
نویسندگان
چکیده
1. Del Brutto OH, Engel J Jr., Eliashiv DS, García HH. Update on cysticercosis epileptogenesis: The role of the hippocampus. Curr Neurol Neurosci Rep 2016;16:1. 2. Bianchin MM, Velasco TR, Wichert‐Ana L, Alexandre V Jr., Araujo D Jr., dos Santos AC, et al. Characteristics of mesial temporal lobe epilepsy associated with hippocampal sclerosis plus neurocysticercosis. Epilepsy Res 2014;108:1889‐95. Letters to the Editor
منابع مشابه
Clinical Manifestations in Paroxysmal Kinesigenic Dyskinesia Patients with Proline-Rich Transmembrane Protein 2 Gene Mutation
BACKGROUND AND PURPOSE Given the diverse phenotypes including combined non-dyskinetic symptoms in patients harboring mutations of the gene encoding proline-rich transmembrane protein 2 (PRRT2), the clinical significance of these mutations in paroxysmal kinesigenic dyskinesia (PKD) is questionable. In this study, we investigated the clinical characteristics of PKD patients with PRRT2 mutations. ...
متن کاملParoxysmal Kinesigenic Dyskinesia
Background Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 (PRRT2) gene. Phenomenology Shown In this article we illustrate the phenomenology of PKD in a male previously misdiagnosed with Tourette's syndrome. Educational Value Regardless of the underlying phenotype, PKD is highly responsive to some...
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OBJECTIVE To explore the potential causative genes of paroxysmal hypnogenic dyskinesia (PHD), which was initially considered a subtype of paroxysmal dyskinesia and has been recently considered a form of nocturnal frontal lobe epilepsy (NFLE). METHODS Eleven patients with PHD were recruited. Mutations in proline-rich region transmembrane protein-2 (PRRT2), myofibrillogenesis regulator 1 (MR-1)...
متن کاملSuccessful control with carbamazepine of family with paroxysmal kinesigenic dyskinesia of PRRT2 mutation
Paroxysmal kinesigenic dyskinesia (PKD), a rare paroxysmal movement disorder often misdiagnosed as epilepsy, is characterized by recurrent, brief dyskinesia attacks triggered by sudden voluntary movement. Pathophysiological mechanism of PKD remains not well understood. Ion channelopathy has been suggested, since the disease responds well to ion channel blockers. Mutations in proline-rich transm...
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BACKGROUND Mutations in proline-rich transmembrane protein 2 (PRRT2) are a cause of paroxysmal kinesigenic dyskinesia (PKD). In this study, we investigated the PRRT2 gene mutation in a Chinese Han family with PKD and study the pathogenesis of the mutation with PRRT2 gene. METHODS Peripheral venous blood was taken from the family members. Sanger sequencing was used for novel mutation sequencin...
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