Angelman Syndrome (Syndrome, Angelman)

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147 relevant articles (4 outcomes, 13 trials/studies) found for this Disease

Description: 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:

Syndrome, Angelman; Syndrome, Happy Puppet; Children, Puppet; Happy Puppet Syndrome; Puppet Children

Relationship Network

Disease Context: Research Results

Nervous System Diseases: 3422

Central Nervous System Diseases: 931

Movement Disorders: 1473

Angelman Syndrome: 147

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 422

Congenital Abnormalities: 9332

Multiple Abnormalities: 120

Angelman Syndrome: 147

Chromosome Disorders: 63

Angelman Syndrome: 147

Inborn Genetic Diseases: 549

Chromosome Disorders: 63

Angelman Syndrome: 147

Related Diseases

1.	Sleep Initiation and Maintenance Disorders (Insomnia)
2.	Seizures (Seizure)
3.	Autistic Disorder (Autism)
4.	Prader-Willi Syndrome (Syndrome, Prader-Willi)
5.	Chromosome Aberrations (Chromosome Abnormalities)

Experts

1.	Wagstaff, Joseph: 3 articles (12/2004 - 05/2004)
2.	Dan, Bernard: 2 articles (08/2007 - 12/2004)
3.	Boyd, Stewart G: 2 articles (08/2007 - 12/2004)
4.	Cheron, Guy: 2 articles (08/2007 - 12/2004)
5.	Maggouta, F: 2 articles (07/2003 - 02/2002)
6.	Korpi, E R: 2 articles (04/2003 - 01/2001)
7.	Braam, Wiebe: 1 article (06/2008)
8.	Curfs, Leopold M G: 1 article (06/2008)
9.	Smits, Marcel G: 1 article (06/2008)
10.	Didden, Robert: 1 article (06/2008)

Drugs and Biologics

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

1.	MelatoninIBA 10/01/2008 - "Melatonin is effective in treating sleep problems in Angelman syndrome but problems in metabolising melatonin may be part of the Angelman phenotype." 10/01/2008 - "Previous studies suggested that melatonin improves sleep in insomniac patients with Angelman syndrome" 06/01/2008 - "Previous studies suggested that melatonin improves sleep in insomniac patients with Angelman syndrome" 06/01/2008 - "Indications that melatonin dose in Angelman syndrome patients should be low, are discussed." 01/01/1999 - "These data suggest that a moderate increase in circulating melatonin levels significantly reduces motor activity during the sleep period in Angelman syndrome children, and promotes sleep." Order ALL the reference details at left...
2.	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." 11/01/1998 - "PURPOSE: To explore parents' opinions and concerns about seizures, anticonvulsants, and the effect of treatment in children with Angelman syndrome" 06/01/2000 - "The chloride channel of the GABAA receptor is responsible for the rapid hyperpolarization of PDS, it has been involved in epileptogenesis after kindling, it may be the substrate of the Angelman syndrome, and it is activated by many classical and new antiepileptic drugs" 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" Order ALL the reference details at left...
3.	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." 12/01/2005 - "PURPOSE: gamma-Aminobutyric acid receptor (GABA(A)r) subunit beta3-deficient mice model Angelman syndrome by displaying impaired learning, abnormal EEG with interictal spikes and slowing, myoclonus, and convulsions" Order ALL the reference details at left...
4.	VigabatrinIBA 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" Order ALL the reference details at left...
5.	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." 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" 08/01/1994 - "The development of probes containing segments of DNA from chromosome region 15q11-q13 provides the opportunity to confirm the diagnosis of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) by fluorescence in situ hybridization (FISH)" Order ALL the reference details at left...
6.	Sm nuclear antigensIBA 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" 10/01/2005 - "We report here on an unexpected abnormal hybridization pattern for the 15q specific subtelomeric control probe (clone 154P1) of the commercial SNRPN probe in a girl referred for suspicion of Angelman syndrome" 01/01/2005 - "SNRPN is located within the Prader-Willi and Angelman syndrome (PWS/AS) region that contains multiple imprinted genes, which are coordinately regulated by a bipartite imprinting center (IC)" 05/01/2004 - "SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome." Order ALL the reference details at left...
7.	gamma-Aminobutyric Acid (GABA)IBA 05/01/2008 - "Sleep problems in Angelman syndrome reflect abnormal neurodevelopmental functioning presumably involving dysregulation of GABA-mediated inhibitory influences in thalamocortical interactions" 09/01/1999 - "GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man." 06/01/2003 - "Although fascinating, this theory is simplistic, since patients with Angelman syndrome without GABA deletion may present epilepsy and EEG abnormalities" 06/01/2003 - "A discussion concerning similarities between these findings and those observed in Angelman syndrome has been performed, since in both syndromes, GABA genes are involved and may play a role in the pathogenesis" 01/01/1997 - "Plasma gamma-aminobutyric acid (GABA) levels were measured in 14 subjects with Prader-Willi syndrome, 9 subjects with Angelman syndrome, and matched control subjects" Order ALL the reference details at left...
8.	Genetic Markers (Genetic Marker)IBA 07/01/2003 - "A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype." 02/01/1998 - "Patients with a larger inv dup(15) marker chromosome including the PW/ASCR may have a higher risk of abnormalities, but not the typical Prade-Willi/Angelman syndrome phenotype." 01/01/1997 - "The karyotypes showed a marker chromosome, that was not present in the female with Angelman syndrome" 01/01/1997 - "Angelman syndrome caused by loss of a marker chromosome: cytogenetic and fluorescence in situ hybridization analysis." 05/01/1995 - "Previously, 158 nuclear families with probands suspected of having either Prader Willi (PWS) or Angelman syndrome (AS) were analyzed with polymorphic DNA markers from the 15q11-13 region" Order ALL the reference details at left...
9.	GABA-A Receptors (GABA(A) Receptor)IBA 04/17/2003 - "Mouse models of Angelman syndrome, a neurodevelopmental disorder, display different brain regional GABA(A) receptor alterations." 03/01/2000 - "Mice with an inactivated GABA(A) receptor beta(3) subunit gene have features of Angelman syndrome, including absence-like seizures" 09/01/1999 - "These gabrb3 gene knockout mice provide direct evidence that a reduction of a specific subunit of the GABA(A) receptor system can result in epilepsy and support a GABAergic role in the pathophysiology of Angelman syndrome." 04/01/2008 - "OBJECTIVE: To evaluate the role of the gamma-aminobutyric acid type A (GABA(A)) receptor in Angelman syndrome (AS)" 05/01/1996 - "A receptor mapping technique using iodine-123 iomazenil and single-photon emission tomography (SPET) was employed to examine benzodiazepine receptor binding in a patient with Angelman syndrome (AS)" Order ALL the reference details at left...
10.	Flumazenil (Romazicon)FDA LinkGeneric 01/01/2001 - "We used positron emission tomography (PET) to study brain [11C]flumazenil (FMZ) binding in four Angelman syndrome (AS) patients" 04/01/2008 - "11)C]flumazenil positron emission tomography analyses of brain gamma-aminobutyric acid type A receptors in Angelman syndrome." 01/01/2001 - "Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABA(A) receptor beta3 subunit deletions." Order ALL the reference details at left...

Therapies and Procedures

1.	Anesthesia 04/01/2008 - "Vagal hypertonia and anesthesia in Angelman syndrome." 11/01/2007 - "Anesthesia in a patient with Angelman syndrome]" Order ALL the reference details at left...
2.	Rehabilitation 07/01/1993 - "The eye care professional should work in concert with speech, occupational, and physical therapists, neurologists, and special educators in the multi-disciplinary treatment and habilitation of all children with disabilities including those with Angelman Syndrome." Order ALL the reference details at left...
3.	Ligation 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" Order ALL the reference details at left...

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