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Genotype-Phenotype Correlations in Angelman Syndrome.
Yang L, Shu X, Mao S, Wang Y, Du X, Zou C. Yang L, et al. Genes (Basel). 2021 Jun 28;12(7):987. doi: 10.3390/genes12070987. Genes (Basel). 2021. PMID: 34203304 Free PMC article. Review.
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin-protein ligase E3A (UBE3A) on the chromosome 15q11-13 region. ...
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubi …
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. Duis J, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1843. doi: 10.1002/mgg3.1843. Epub 2022 Feb 11. Mol Genet Genomic Med. 2022. PMID: 35150089 Free PMC article. Review.
We present a consensus statement and comprehensive literature review that proposes a standard of care practices for the management of AS at a critical time when therapeutics to alter the natural history of the disease are on the horizon. ...Data from the literature …
We present a consensus statement and comprehensive literature review that proposes a standard of care practices for the management of …
Current and emerging treatment options for Angelman syndrome.
Keary CJ, McDougle CJ. Keary CJ, et al. Expert Rev Neurother. 2023 Jul-Dec;23(9):835-844. doi: 10.1080/14737175.2023.2245568. Epub 2023 Aug 21. Expert Rev Neurother. 2023. PMID: 37599585 Review.
INTRODUCTION: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, limited expressive language, epilepsy, and motor impairment. Angelman syndrome is caused by haploinsufficiency of the UBE3A gene on the mate …
INTRODUCTION: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, limited expres …
Management of Sleep Disorders in Children With Neurodevelopmental Disorders: A Review.
Blackmer AB, Feinstein JA. Blackmer AB, et al. Pharmacotherapy. 2016 Jan;36(1):84-98. doi: 10.1002/phar.1686. Pharmacotherapy. 2016. PMID: 26799351 Review.
Examples of NDDs discussed in this review include autism spectrum disorder, cerebral palsy, Rett syndrome, Angelman syndrome, Williams syndrome, and Smith-Magenis syndrome. ...Sleep hygiene must be implemented as first-line therapy; if sl …
Examples of NDDs discussed in this review include autism spectrum disorder, cerebral palsy, Rett syndrome, Angelman syndrom …
Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases.
Holm A, Hansen SN, Klitgaard H, Kauppinen S. Holm A, et al. RNA Biol. 2022;19(1):594-608. doi: 10.1080/15476286.2022.2066334. Epub 2021 Dec 31. RNA Biol. 2022. PMID: 35482908 Free PMC article.
RNA therapeutics comprise a diverse group of oligonucleotide-based drugs such as antisense oligonucleotides (ASOs), small interfering RNAs (siRNAs), and short hairpin RNAs (shRNAs) that can be designed to selectively interact with drug targets currently undruggable with sm …
RNA therapeutics comprise a diverse group of oligonucleotide-based drugs such as antisense oligonucleotides (ASOs), small interfering …
Angelman Syndrome: Identification and Management.
Bonello D, Camilleri F, Calleja-Agius J. Bonello D, et al. Neonatal Netw. 2017 May 1;36(3):142-151. doi: 10.1891/0730-0832.36.3.142. Neonatal Netw. 2017. PMID: 28494826 Review.
Angelman syndrome (AS) is a neurobehavioral and genetically determined condition, which affects approximately 1 in 15,000 individuals. ...There is currently no cure for AS, and management is mainly symptomatic. Novel therapeutic options are directed toward th …
Angelman syndrome (AS) is a neurobehavioral and genetically determined condition, which affects approximately 1 in 15,000 indi …
Prenatal treatment path for angelman syndrome and other neurodevelopmental disorders.
Zylka MJ. Zylka MJ. Autism Res. 2020 Jan;13(1):11-17. doi: 10.1002/aur.2203. Epub 2019 Sep 6. Autism Res. 2020. PMID: 31490639 Free PMC article. Review.
Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by mutation or deletion of the maternally inherited UBE3A allele. ...LAY SUMMARY: Prenatal treatment could benefit expectant parents whose babies test positive for the chromosome microdeletion that …
Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by mutation or deletion of the maternally inherited UBE3A …
Angelman syndrome 2005: updated consensus for diagnostic criteria.
Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J. Williams CA, et al. Am J Med Genet A. 2006 Mar 1;140(5):413-8. doi: 10.1002/ajmg.a.31074. Am J Med Genet A. 2006. PMID: 16470747
In 1995, a consensus statement was published for the purpose of summarizing the salient clinical features of Angelman syndrome (AS) to assist the clinician in making a timely and accurate diagnosis. ...
In 1995, a consensus statement was published for the purpose of summarizing the salient clinical features of Angelman syndrome …
Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment.
Keute M, Miller MT, Krishnan ML, Sadhwani A, Chamberlain S, Thibert RL, Tan WH, Bird LM, Hipp JF. Keute M, et al. Mol Psychiatry. 2021 Jul;26(7):3625-3633. doi: 10.1038/s41380-020-0858-6. Epub 2020 Aug 13. Mol Psychiatry. 2021. PMID: 32792659 Free PMC article.
Angelman Syndrome (AS) is a severe neurodevelopmental disorder due to impaired expression of UBE3A in neurons. ...The results of this systematic analysis highlight the relevance of genomic regions beyond UBE3A as contributing factors in the AS phenotype, and provide …
Angelman Syndrome (AS) is a severe neurodevelopmental disorder due to impaired expression of UBE3A in neurons. ...The results …
Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations.
Granild Bie Mertz L, Christensen R, Vogel I, Hertz JM, Østergaard JR. Granild Bie Mertz L, et al. Res Dev Disabil. 2016 Sep;56:177-82. doi: 10.1016/j.ridd.2016.06.002. Res Dev Disabil. 2016. PMID: 27323320
BACKGROUND: Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, epilepsy, and low threshold for laughter. ...
BACKGROUND: Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, epilepsy, and low thre …
57 results