ReviewJournal of medical genetics1996
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
Review in Journal of medical genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 114 citations in OpenAlex.
- Movement Disorders and Syndromic Autism: A Systematic Review.Journal of autism and developmental disorders · 2019Pooled it
- Circadian Rhythms and Sleep Are Dependent Upon Expression Levels of Key Ubiquitin LigaseFrontiers in behavioral neuroscience · 2022Article
- Clinical aspects of a large group of adults with Angelman syndrome.American journal of medical genetics. Part A · 2021Article
- Circadian biology and sleep in monogenic neurological disorders and its potential application in drug discovery.Current opinion in behavioral sciences · 2019Article
- A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex.Journal of neurodevelopmental disorders · 2018Article
- UBE3A: An E3 Ubiquitin Ligase With Genome-Wide Impact in Neurodevelopmental Disease.Frontiers in molecular neuroscience · 2018Review
- Melatonin and Angelman Syndrome: Implications and Mathematical Model of Diurnal Secretion.International journal of endocrinology · 2017Article
- Ube3a imprinting impairs circadian robustness in Angelman syndrome models.Current biology : CB · 2015Article
- Angelman syndrome in adulthood.American journal of medical genetics. Part A · 2015Article
- Sleep, plasticity and the pathophysiology of neurodevelopmental disorders: the potential roles of protein synthesis and other cellular processes.Brain sciences · 2014Article
- A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.Journal of developmental and behavioral pediatrics : JDBP · 2010Article
- Angelman syndrome (AS, MIM 105830).European journal of human genetics : EJHG · 2009Review
- Behavior and neuropsychiatric manifestations in Angelman syndrome.Neuropsychiatric disease and treatment · 2008Article
- Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology.Journal of autism and developmental disorders · 2003Article
- Angelman syndrome: a review of the clinical and genetic aspects.Journal of medical genetics · 2003Review
- Distinct phenotypes distinguish the molecular classes of Angelman syndrome.Journal of medical genetics · 2001Article
- Parental view of epilepsy in Angelman syndrome: a questionnaire study.Archives of disease in childhood · 1998Article
- Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 1998Article
- A candidate model for Angelman syndrome in the mouse.Mammalian genome : official journal of the International Mammalian Genome Society · 1997Article
- Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.Journal of medical genetics · 1997Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report the clinical features in 27 Australasian patients with Angelman syndrome (AS), all with a DNA deletion involving chromosome 15(q11-13), spanning markers from D15S9 to D15S12, about 3 center dot 5 Mb of DNA. There were nine males and 18 females. All cases were sporadic. The mean age at last review (end of 1994) was 11 center dot 2 years (range 3 to 34 years). All patients were ataxic, severely retarded, and lacking recognisable speech. In all patients, head circumference (HC) at birth was normal but skewed in distribution, with 62 center dot 5% at the 10th centile. At last review HC was around the 50th centile in three patients (12 center dot 5%) while 15 had poor postnatal head growth. Short stature was not invariable, 5/26 (19%) were on or above the 50th centile. Hypotonia at birth was recorded in 15/24 (63%) and neonatal feeding difficulties were recorded in 20/26 (77%). Epilepsy was present in 26/27 (96%) with onset by the third year of life in 20 patients (83%). Improvement in epilepsy was reported in 11/16 patients (69%) with age. An abnormal EEG was reported in 25/25 patients. Hypopigmentation was present in 19/26 (73%). One patient had oculocutaneous albinism. Five patients could not walk independently. Of the remaining 22 who could walk, age of onset of walking ranged from 2 to 8 years. Disrupted sleep patterns were present in 18/21 patients (86%), with improvement in 9/12 patients (75%) over 10 years of age. The clinical features in this group of deletional AS patients were similar to previous reports, but these have not separated patients into subgroups based on DNA studies. In our group of deletional cases, 100% showed severe mental retardation, ataxic movements, absent language, abnormal EEG, happy disposition (noted in infancy in 95%), normal birth weight and head circumference at birth, and a large, wide mouth. These features occurred with a higher frequency than in AS patients as a whole. Our study also provided information on the evolution of the phenotype. The data can act as a benchmark for comparisons of AS resulting from other genetic mechanisms.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.