Angelman Syndrome (Syndrome, Angelman)

A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)

Also Known As:

Networked: 460 relevant articles (10 outcomes, 40 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Seizures (Absence Seizure)
2.	Sleep Initiation and Maintenance Disorders (Insomnia)
3.	Scoliosis
4.	Spasm (Spasms)
5.	Autistic Disorder (Autism)

Experts

1.	Elgersma, Ype: 16 articles (01/2022 - 08/2012)
2.	Philpot, Benjamin D: 16 articles (01/2022 - 06/2009)
3.	Bird, Lynne M: 12 articles (01/2022 - 08/2010)
4.	Weeber, Edwin J: 10 articles (01/2022 - 09/2010)
5.	Baudry, Michel: 9 articles (01/2020 - 08/2012)
6.	Bi, Xiaoning: 9 articles (01/2020 - 08/2012)
7.	Tan, Wen-Hann: 8 articles (04/2022 - 12/2011)
8.	Kaphzan, Hanoch: 8 articles (09/2021 - 08/2013)
9.	Thibert, Ronald L: 8 articles (01/2021 - 09/2012)
10.	Sun, Jiandong: 8 articles (01/2020 - 03/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Angelman Syndrome:

1.	Anticonvulsants (Antiepileptic Drugs)IBA 10/01/2001 - "Efficacy of different antiepileptic drugs in children with Angelman syndrome associated with 15q11-13 deletion: the Danish experience." 12/01/2007 - "Dual-energy X-ray absorptiometry should be performed in all patients with Angelman syndrome, particularly if they are treated with antiepileptic drugs." 09/01/2006 - "They highlight the importance of gamma-aminobutyric acidergic mechanism in Angelman syndrome and the antiepileptic drug effects in this syndrome. " 01/01/2016 - "This study aimed to assess the use of newer antiepileptic drug therapies in individuals with Angelman syndrome followed at the Angelman Syndrome Clinic at the Massachusetts General Hospital. " 11/01/1998 - "To explore parents' opinions and concerns about seizures, anticonvulsants, and the effect of treatment in children with Angelman syndrome. "
2.	MelatoninIBA 06/01/2008 - "Previous studies suggested that melatonin improves sleep in insomniac patients with Angelman syndrome. " 11/01/2020 - "Angelman syndrome and melatonin: What can they teach us about sleep regulation." 01/01/2017 - "The estimated sleep duration and phase shift of melatonin release as well as the DMLO offsets at 25% and 50% relative thresholds are the key characteristic of Angelman syndrome children. " 01/01/2017 - "Melatonin and Angelman Syndrome: Implications and Mathematical Model of Diurnal Secretion." 06/01/2008 - "Indications that melatonin dose in Angelman syndrome patients should be low, are discussed."
3.	Antisense OligonucleotidesIBA 01/01/2022 - "Deviations in delta power from a human natural history model in Angelman syndrome can detect antisense oligonucleotide-mediated improvement in Ube3a expression in Angelman syndrome mice and may be relevant for human clinical trials." 01/01/2023 - "Here, we report that reducing Ube3a-ATS by antisense oligonucleotides in juvenile or adult maternal Ube3a knockout mice rescues the abnormal electroencephalogram (EEG) rhythms and sleep disturbance, two prominent clinical features of Angelman syndrome. " 01/01/2022 - "We applied the same model structure to a mouse model of Angelman syndrome (n = 41) to detect antisense oligonucleotide-mediated treatment effects on absolute delta activity and Ube3a expression. " 01/01/2022 - "Longitudinal EEG model detects antisense oligonucleotide treatment effect and increased UBE3A in Angelman syndrome." 01/01/2021 - "Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model."
4.	GABA Receptors (GABA Receptor)IBA 06/01/2008 - "We describe the administration of anaesthesia to a patient with Angelman syndrome, which is characterised by an abnormality of chromosome 15, where a subunit of the GABA receptor is coded. " 12/01/2005 - "Pharmacologic evidence for abnormal thalamocortical functioning in GABA receptor beta3 subunit-deficient mice, a model of Angelman syndrome." 03/29/1994 - "Three genes (Gabrg3, Gabra5, and Gabrb3) encoding the gamma 3, alpha 5, and beta 3 subunits of the type A gamma-aminobutyric acid receptor, respectively, are known to map near the pink-eyed dilution (p) locus in mouse chromosome 7. This region shares homology with a segment of human chromosome 15 that is implicated in Angelman syndrome, an inherited neurobehavioral disorder. " 06/01/1993 - "High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients." 03/01/2016 - "Dexmedetomidine, whose action is independent of GABA receptor, promotes a sleep similar to physiological sleep and can facilitate the performing of this examination in patients with Angelman syndrome. "
5.	Valproic Acid (Depakote)FDA LinkGeneric 01/01/2023 - "Effects of valproate on seizure-like activity in Drosophila melanogaster with a knockdown of Ube3a in different neuronal populations as a model of Angelman Syndrome." 08/19/2008 - "Valproic acid (VPA) is a commonly prescribed and approved treatment for epilepsy, including Angelman syndrome, throughout the world. " 06/16/2015 - "Extensor and flexor spasms are not typically described seizure types in Angelman syndrome, and our patient's seizures responded well to a combination of valproic acid and clonazepam. " 01/01/2004 - "Although some cases of Angelman syndrome associated with Lennox-Gastaut syndrome were reported in the literature, valproate and/or lamotrigine induced toxic hepatitis in Angelman syndrome has hitherto never been described. " 01/01/2004 - "We report a 26-month-old boy with Angelman syndrome associated with Lennox-Gastaut syndrome, who developed a rash and a persistent toxic hepatitis after lamotrigine was added to valproate therapy. "
6.	Clonazepam (Rivotril)FDA LinkGeneric 06/16/2015 - "Extensor and flexor spasms are not typically described seizure types in Angelman syndrome, and our patient's seizures responded well to a combination of valproic acid and clonazepam. " 01/01/2016 - "Treatment with older antiepileptic drugs such as valproic acid and clonazepam is effective, but these medications tend to have less favorable side effect profiles in Angelman syndrome compared with those in newer medications. " 03/01/2013 - "Some efficacy trends were identified, including frequent successes with valproic acid with clonazepam for epilepsy with Angelman syndrome; valproic acid, stiripentol, and clobazam (triple combination therapy) for epilepsy with Dravet syndrome; and vigabatrin for infantile spasms associated with tuberous sclerosis complex. "
7.	VigabatrinFDA Link 11/01/1998 - "Adverse effects of vigabatrin in Angelman syndrome." 11/01/1998 - "New antiepileptic drugs designed for enhancing GABAergic inhibition, such as vigabatrin (VGB) may be effective in Angelman syndrome (AS), because associated convulsions could be related to a reduced GABA-receptor density or receptor abnormality. " 03/01/2013 - "Some efficacy trends were identified, including frequent successes with valproic acid with clonazepam for epilepsy with Angelman syndrome; valproic acid, stiripentol, and clobazam (triple combination therapy) for epilepsy with Dravet syndrome; and vigabatrin for infantile spasms associated with tuberous sclerosis complex. "
8.	coenzyme Q10 (CoQ10)IBA 04/01/2015 - "Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome."
9.	snRNP Core ProteinsIBA 01/01/2016 - "In Prader-Willi/Angelman Syndrome FISH studies, deletion of the SNRPN gene was not observed, but deletion of 15p11.2 was noted. " 11/13/2000 - "However, fluorescence in situ hybridization (FISH) studies showed mosaicism for a deletion of probes (D15S10 and SNRPN) from the Angelman syndrome (AS) critical region with approximately 40% of peripheral lymphocytes having the deletion. " 10/01/1998 - "Clinical reassessment and the use of molecular studies, including methylation analysis with an SNRPN probe, microsatellite analyses of D15S11, GABRB3 and D15S113 loci, and fluorescence in situ hybridization (FISH) using the SNRPN and GABRB3 probes, are consistent with a diagnosis of Angelman syndrome (AS) due to paternal isodisomy. " 01/01/2022 - "We present a patient with speech and language impairment with mild Angelman syndrome (AS) features who demonstrates maternal hypomethylation at 15q11.2 (SNRPN) as well as 11p15.5 (KCNQ1OT1) imprinted loci, but normal methylation at 6q24.2 (PLAGL1), 7p12.1 (GRB10), 7q32.2 (MEST), 11p15.5 (H19), 14q32.2 (MEG3), 19q13.43 (PEG3), and 20q13.32 (GNAS and GNAS-AS1). " 09/01/2010 - "We detected DMRs associated with known imprinted genes within the Prader-Willi/Angelman syndrome region, such as SNRPN and MAGEL2, validating this as a method of detecting imprinted loci. "
10.	DNA (Deoxyribonucleic Acid)IBA 09/01/1997 - "DNA mapping studies in two families provide further information on the Angelman syndrome critical region, which has recently been defined by the gene UBE3A. " 02/01/1996 - "Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion." 10/01/1991 - "DNA deletion and its parental origin in Angelman syndrome patients." 08/16/2005 - "To validate this novel method, we used MS-MLPA to detect aberrant methylation in DNA samples of patients with Prader-Willy syndrome, Angelman syndrome or acute myeloid leukemia." 09/01/1997 - "The second family is a mother and son both of whom have mental retardation but no other features of Angelman syndrome despite an extensive DNA deletion on the telomeric side of UBE3A. "

Therapies and Procedures

1.	Therapeutics 05/13/2022 - "Improvement in Gait and Participation in a Child with Angelman Syndrome after Translingual Neurostimulation Associated with Goal-Oriented Therapy: A Case Report." 01/01/2020 - "Peer-reviewed studies that were closely related to gene therapies in Angelman syndrome and available in English, Greek, Ukrainian or Indonesian were included. " 01/01/2019 - "The objective of this study is to describe healthcare resource utilization (HRU) and supportive therapy utilization (STU) among individuals with Angelman syndrome (AS), and to compare such usage by molecular etiology. " 03/01/2023 - "Quantitative EEG Analysis in Angelman Syndrome: Candidate Method for Assessing Therapeutics." 01/01/2023 - "These results indicate that the therapeutic window of genetic therapies for Angelman syndrome is broader than previously thought, and EEG power spectrum and sleep architecture should be used to evaluate the clinical efficacy of therapies."
2.	Spinal Fusion (Spondylosyndesis) 10/01/2016 - "A retrospective review to assess whether spinal fusion and scoliosis correction improved activity and participation for children with Angelman syndrome."
3.	Ligation 10/01/2022 - "However, methylation testing was positive for Angelman syndrome and additional methylation specific multiplex ligation-dependent amplification (MS-MLPA) study revealed low-level mosaicism for AS. " 01/01/2022 - "Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome." 12/16/2008 - "[Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome]." 12/01/2007 - "A combination of Southern blotting analysis, methylation-sensitive polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) was utilized to evaluate methylation patterns in the Beckwith-Wiedemann syndrome (BWS) and Prader-Willi/Angelman syndrome (PW/AS) critical regions. " 01/01/2015 - "Imprinting disorders, such as Beckwith-Wiedemann syndrome (BWS), Prader-Willi syndrome (PWS) and Angelman syndrome (AS), can be detected via methylation analysis, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), or other methods. "
4.	Radio Frequency Identification Device 05/01/2023 - "In this study we used radio frequency identification technology to quantify parent-child proximity overnight in two groups at elevated risk of behavioral insomnia, Angelman syndrome (AS) and Smith-Magenis syndrome (SMS). "
5.	Anesthesia 01/01/2018 - "Anesthesia considerations for an adult patient with Angelman syndrome." 10/01/2017 - "We retrospectively reviewed perioperative course of patients with Angelman syndrome who underwent procedures under anesthesia from 2000 to 2016. " 07/01/2011 - "[Anesthesia and Angelman syndrome]." 02/01/2010 - "Anesthesia of a dental patient with Angelman syndrome -A case report-." 12/01/2008 - "Angelman syndrome and anesthesia."