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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:
Syndrome, Angelman; Syndrome, Happy Puppet; Children, Puppet; Happy Puppet Syndrome; Puppet Children
Networked: 264 relevant articles (5 outcomes, 19 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

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

Experts

1. Beaudet, Arthur L: 7 articles (02/2015 - 12/2003)
2. Scheffner, Martin: 5 articles (05/2013 - 10/2008)
3. Jana, Nihar Ranjan: 4 articles (09/2015 - 04/2009)
4. Godavarthi, Swetha K: 4 articles (09/2015 - 04/2009)
5. Reiter, Lawrence T: 4 articles (01/2014 - 09/2006)
6. Matentzoglu, Konstantin: 4 articles (05/2013 - 10/2008)
7. Philpot, Benjamin D: 4 articles (04/2013 - 06/2009)
8. Dan, Bernard: 4 articles (06/2012 - 12/2004)
9. Peters, Sarika U: 4 articles (03/2012 - 07/2004)
10. Saitoh, Shinji: 3 articles (02/2015 - 04/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Angelman Syndrome:
1. Anticonvulsants (Antiepileptic Drugs)IBA
2. MelatoninIBA
3. GABA Receptors (GABA Receptor)IBA
4. Valproic Acid (Valproate, Semisodium)FDA LinkGeneric
5. VigabatrinFDA Link
6. Clonazepam (Rivotril)FDA LinkGeneric
7. coenzyme Q10 (CoQ10)IBA
8. DNA (Deoxyribonucleic Acid)IBA
9. snRNP Core ProteinsIBA
10. gamma-Aminobutyric Acid (GABA)IBA

Therapies and Procedures

1. Ligation
2. Anesthesia
3. Ketogenic Diet
4. General Anesthesia
5. Intraocular Lens Implantation