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Angelman Syndrome (Syndrome, Angelman) Summary

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

Networked: 264 relevant articles (5 outcomes, 19 trials/studies) for this Disease

Key Drugs and Agents for Angelman Syndrome

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Anticonvulsants (Antiepileptic Drugs) : 2 outcomes in 6 results : IBA
  2. Melatonin : 1 outcome 1 study in 3 results : IBA
  3. GABA Receptors (GABA Receptor) : 1 outcome in 5 results : IBA
  4. Valproic Acid (Valproate, Semisodium) : 1 outcome in 4 results : FDA 51 Generic
  5. Vigabatrin : 1 outcome in 2 results : FDA 2
  6. Clonazepam (Rivotril) : 1 outcome in 2 results : FDA 16 Generic
  7. coenzyme Q10 (CoQ10) : 1 outcome in 1 result : IBA
  8. DNA (Deoxyribonucleic Acid) : 4 studies in 18 results : IBA
  9. snRNP Core Proteins : 3 studies in 33 results : IBA
  10. gamma-Aminobutyric Acid (GABA) : 3 studies in 12 results : IBA
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Diseases Related to Angelman Syndrome

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

Efficacy Chart >>
  1. Ligation : 5 results
  2. Anesthesia : 5 results
  3. Ketogenic Diet : 2 results
  4. General Anesthesia : 2 results
  5. Intraocular Lens Implantation : 1 result
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