Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan
Sign Up to like & getrecommendations! Published in 2021 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2021.117321
Abstract: This study aimed to elucidate the clinical characteristics of MECP2 duplication syndrome (MDS), particularly at initial presentation, and to provide clinical clues for the early diagnosis of this condition. We conducted a nationwide survey for… read more here.
Keywords: mecp2 duplication; diagnosis; nationwide survey; early diagnosis ... See more keywords
Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies
Sign Up to like & getrecommendations! Published in 2020 at "The Lancet Neurology"
DOI: 10.1016/s1474-4422(20)30217-9
Abstract: The X-linked gene encoding MECP2 is involved in two severe and complex neurodevelopmental disorders. Loss of function of the MeCP2 protein underlies Rett syndrome, whereas duplications of the MECP2 locus cause MECP2 duplication syndrome. Research… read more here.
Keywords: duplication syndrome; mecp2 duplication; advances understanding; mecp2 ... See more keywords
Genetic Reduction or Negative Modulation of mGlu7 Does Not Impact Anxiety and Fear Learning Phenotypes in a Mouse Model of MECP2 Duplication Syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "ACS chemical neuroscience"
DOI: 10.1021/acschemneuro.7b00414
Abstract: Rett syndrome and MECP2 Duplication syndrome are neurodevelopmental disorders attributed to loss-of-function mutations in, or duplication of, the gene encoding methyl-CpG-binding protein 2 (MeCP2), respectively. We recently reported decreased expression and function of the metabotropic… read more here.
Keywords: mecp2 duplication; duplication; mglu7; duplication syndrome ... See more keywords
Expanding the clinical picture of the MECP2 Duplication syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12814
Abstract: Individuals with two or more copies of the MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype known as MECP2 Duplication syndrome. We have examined perinatal characteristics, early childhood development and… read more here.
Keywords: mecp2 duplication; expanding clinical; duplication; duplication syndrome ... See more keywords
Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Science Translational Medicine"
DOI: 10.1126/scitranslmed.aaz7785
Abstract: Antisense oligonucleotides are efficacious and safe in a humanized mouse model of MECP2 duplication syndrome. A SOlution for MDS in humanized mice MECP2 duplication syndrome (MDS) is a genetic disorder characterized by severe intellectual disability,… read more here.
Keywords: mecp2 duplication; model; duplication syndrome; mouse model ... See more keywords
Cortisol profiles and clinical severity in MECP2 duplication syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neurodevelopmental Disorders"
DOI: 10.1186/s11689-020-09322-5
Abstract: MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder primarily affecting males which is caused by interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. Core clinical features of MDS include choreiform movements, progressive… read more here.
Keywords: mecp2 duplication; severity; duplication syndrome; clinical severity ... See more keywords
Stereotyped Upper Limb Movement in MECP2 Duplication Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000012757
Abstract: In the Video NeuroImage article “Stereotyped Upper Limb Movement in MECP2 Duplication Syndrome” by Wakabayashi et al.,1 the first sentence should read: “A 23-year-old man had epilepsy, intellectual disability, and a stereotyped movement (Figure 1… read more here.
Keywords: mecp2 duplication; movement; movement mecp2; stereotyped upper ... See more keywords
Inhibition of Elevated Ras-MAPK Signaling Normalizes Enhanced Motor Learning and Excessive Clustered Dendritic Spine Stabilization in the MECP2-Duplication Syndrome Mouse Model of Autism
Sign Up to like & getrecommendations! Published in 2021 at "eNeuro"
DOI: 10.1523/eneuro.0056-21.2021
Abstract: Visual Abstract Abstract The inflexible repetitive behaviors and “insistence on sameness” seen in autism imply a defect in neural processes controlling the balance between stability and plasticity of synaptic connections in the brain. It has… read more here.
Keywords: mecp2 duplication; model; motor; autism ... See more keywords