Results 71 to 80 of about 9,569 (209)
Myoclonus in Angelman Syndrome
, 1996 A clinical and electroencephalographic study of 11 unrelated patients with Angelman syndrome (AS), confirmed by genetic analysis, is reported from the University of Pisa ...
J Gordon Millichap
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Sleep profiles in individuals with rare neurogenetic syndromes
Developmental Medicine &Child Neurology, EarlyView.Aim To characterize sleep profiles in individuals with neurogenetic disorders (NGDs) and examine the contribution of key clinical and psychiatric symptoms to these profiles. Method The parents of 248 individuals (aged 3–45 years) diagnosed with a range of NGDs, including PTEN hamartoma tumor syndrome (n = 111), SYNGAP1‐related intellectual disability ...
Isabella C. Reyes +7 more
wiley +1 more source
Sudden death and Angelman Syndrome
, 2012 Angelman syndrome is a condition characterized by developmental delay due to abnormalities in the maternally derived chromosome 15q11-q13. Typical features include impaired expressive language, an ataxic gait, and seizures.
Byard, R., Herbst, J.
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Strabismus surgery in Angelman syndrome: More than ocular alignment.
PLoS ONE, 2020 PurposeTo report and evaluate strabismus surgery in children with Angelman syndrome, in order to optimize and standardize surgical approach. Other purposes are to understand the possible relation between ocular findings and motor ability, and between ...
Paola Michieletto +6 more
doaj +1 more source
Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.Abstract Alzheimer's disease (AD) is a multifactorial neurodegenerative disorder driven by intersecting pathological processes. Persistent attrition in AD drug‐development pipelines highlights the limited clinical impact of single‐target therapies and has increased interest in multi‐target approaches acting on shared biological hubs.
Humberto Martínez‐Orozco +4 more
wiley +1 more source
Bone Mineral Density in Angelman Syndrome
, 2007 Our aim was to evaluate bone mineral densitometry in patients with Angelman syndrome with or without antiepileptic therapy. Eighteen patients (9 females, 9 males), aged 4.0-24.3 years (mean age, 10.1 years), and two control groups consisting of 18 ...
Verrotti, Alberto +13 more
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Chapter 1 of this thesis provides a general introduction. Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by a severe intellectual disability, little to no speech, and motor problems. Children with AS frequently have epilepsy, sleeping problems, behavioral uniqueness (frequent laughter/smiling in combination with an easily ...
Madaan M, Morales A.
europepmc +4 more sources
Clinical Case Reports, Volume 14, Issue 6, June 2026.ABSTRACT Pathogenic variants in GNB2 have been associated with a neurodevelopmental disorder that includes global developmental delays and intellectual disability, hypotonia, increased risk for seizures, heart and renal anomalies, and characteristic facial features.
Megan Glassford +2 more
wiley +1 more source
Angelman Syndrome: Finding the Lost Arc
, 2010 Angelman syndrome is a neurodevelopmental disorder caused by mutations in the maternally inherited UBE3A gene, which encodes a ubiquitin ligase. Greer et al.
Schuman, E. +3 more
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Genetic testing for familial epilepsies: Diagnostic yield and genetic findings
Epilepsia, Volume 67, Issue 6, Page 3048-3057, June 2026.Abstract Objective Genetic testing has become a routine part of clinical epilepsy care. Family history is an indication for genetic testing, but the diagnostic yield, predictors of a genetic diagnosis, and association with familial patterns are not well understood.
Colin A. Ellis +27 more
wiley +1 more source