Severe Choreo‐Ballism Episodes Due to PRRT2 Gene Mutations—A Vignette
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13042
Abstract: An 18-year-old boy presented with a 5-year history of brief episodes of involuntary, random, flinging movements of all 4 limbs and trunk lasting for 30 to 60 seconds. These episodes were precipitated by sudden movements,… read more here.
Keywords: severe choreo; episodes due; choreo ballism; ballism episodes ... See more keywords
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
Sign Up to like & getrecommendations! Published in 2019 at "Italian Journal of Pediatrics"
DOI: 10.1186/s13052-019-0755-2
Abstract: BackgroundMutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic paroxysms… read more here.
Keywords: dysmorphic features; congenital microcephaly; child; prrt2 gene ... See more keywords