Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith–Magenis syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.1806796115
Abstract: Significance Losing one copy of the RAI1 gene causes Smith–Magenis syndrome (SMS), a neurodevelopmental disorder. Using a newly generated SMS mouse model, this study demonstrates that restoring the Rai1 gene dose in an early postnatal… read more here.
Keywords: model; social interaction; mouse model; smith magenis ... See more keywords
Loss of Rai1 enhances hippocampal excitability and epileptogenesis in mouse models of Smith–Magenis syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2210122119
Abstract: Significance Smith–Magenis syndrome (SMS) is a neurodevelopmental disorder associated with autism and epileptic seizures. SMS is caused by losing one copy of the gene encoding retinoic acid induced 1 (RAI1), a ubiquitously expressed transcriptional regulator.… read more here.
Keywords: smith magenis; loss rai1; mouse; excitability ... See more keywords
A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Neurodevelopmental Disorders"
DOI: 10.1186/s11689-018-9226-0
Abstract: BackgroundSleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC). Phenotypic sleep profiles for… read more here.
Keywords: disorder; disturbance children; children smith; smith magenis ... See more keywords
Using a Functional Analysis Followed by Differential Reinforcement and Extinction to Reduce Challenging Behaviors in Children With Smith-Magenis Syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "American journal on intellectual and developmental disabilities"
DOI: 10.1352/1944-7558-123.6.558
Abstract: Smith-Magenis syndrome (SMS) is a genetic disorder, commonly caused by a 17p11.2 deletion, affecting the Retinoic Acid Induced 1 gene. It affects approximately 1 in 25,000 individuals, with over 90% engaging in challenging behaviors. Function-based… read more here.
Keywords: magenis syndrome; reinforcement extinction; differential reinforcement; challenging behaviors ... See more keywords
Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.688022
Abstract: Activated PI3-kinase-δ syndrome 2 (APDS2) is caused by autosomal dominant mutations in the PIK3R1 gene encoding the p85α, p55α, and p50α regulatory subunits. Most diagnosed APDS2 patients carry mutations affecting either the splice donor or… read more here.
Keywords: magenis syndrome; kinase syndrome; activated pi3; pi3 kinase ... See more keywords
Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13020335
Abstract: Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2 deletions (90%), encompassing multiple genes and including… read more here.
Keywords: smith magenis; clinical review; syndrome clinical; magenis syndrome ... See more keywords