“Angelman syndrome”(AS) is a neurodevelopmental disorder whose main features are
intellectual disability, lack of speech, seizures, and a characteristic behavioral profile. The …

Angelman syndrome is characterized by severe developmental delay, speech impairment,
gait ataxia and/or tremulousness of the limbs, and a unique behavioral phenotype that …

In 1995, a consensus statement was published for the purpose of summarizing the salient
clinical features of Angelman syndrome (AS) to assist the clinician in making a timely and …

A cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various
forms of stereotyped deletions and duplication events that cause a group of …

The proximal long arm of chromosome 15 has segmental duplications located at
breakpoints BP1–BP5 that mediate the generation of NAHR-related microdeletions and …

Angelman syndrome is a neurogenetic disorder characterized by the loss or reduction of the
ubiquitin-protein ligase E3A enzyme. Angelman syndrome results from a deletion or …

Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases
have been described. We characterize 13 patients with DVD—5 with hemizygous paternal …

Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes - Pediatric Clinics Skip to
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Methods for treating a psychiatric or neurological disease or disorder using combinations of
Group 1 mGluR antagonists are disclosed. In certain aspects, these methods include the …

Angelman Syndrome (AS) is a severe neurodevelopmental disorder due to impaired
expression of UBE3A in neurons. There are several genetic mechanisms that impair UBE3A …