Treatment of Bi-Allelic PRRT-2 Mutation Associated Ataxia and Paroxysmal Dyskinesia
نویسندگان
چکیده
PRRT2 is located on chromosome 16p11.2 and a transmembrane protein highly expressed in the CNS that has been identified to play role epilepsy, movement disorders hemiplegic migraines. Specifically, variants are families with paroxysmal kinesigenic dyskinesia.
منابع مشابه
Ataxia and Paroxysmal Dyskinesia in Mice Lacking Axonally Transported FGF14
Fibroblast growth factor 14 (FGF14) belongs to a distinct subclass of FGFs that is expressed in the developing and adult CNS. We disrupted the Fgf14 gene and introduced an Fgf14(N-beta-Gal) allele that abolished Fgf14 expression and generated a fusion protein (FGF14N-beta-gal) containing the first exon of FGF14 and beta-galactosidase. Fgf14-deficient mice were viable, fertile, and anatomically ...
متن کاملProline-rich Transmembrane Protein 2 Gene Mutation in a Sporadic Paroxysmal Kinesigenic Dyskinesia
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;108:1889‐9...
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...
متن کاملParoxysmal Kinesigenic Dyskinesia.
We present a case of paroxysmal kinesigenic dyskinesia (PKD) in a 21 year old girl, with no family history of similar episodes. The episodes were short (lasting less than a minute), frequent, occurring 5 to 10 times a day, self-limiting dystonia of her right upper limb precipitated by sudden movement. She also had a past history of partial seizures with secondary generalization in her childhood...
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ژورنال
عنوان ژورنال: Journal of pediatric neurology and neuroscience
سال: 2022
ISSN: ['2642-4797']
DOI: https://doi.org/10.36959/595/442