Sensory processing in 16p11.2 deletion and 16p11.2 duplication
Sign Up to like & getrecommendations! Published in 2022 at "Autism Research"
DOI: 10.1002/aur.2802
Abstract: Deletions and duplications at the chromosomal region of 16p11.2 have a broad range of phenotypic effects including increased likelihood of intellectual disability, autism, attention deficit hyperactivity disorder (ADHD), epilepsy, and language and motor delays. However,… read more here.
Keywords: 16p11 deletion; 16p11 duplication; sensory processing;
Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Neurology: Genetics"
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