New genes involved in Angelman syndrome-like: expanding the genetic spectrum

Abstract excerpt

Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 10-15% of patients with an AS phenotype whose genetic cause remains unknown (Angelman-like syndrome, AS-like). Whole-exome sequencing (WES) was performed on a cohort of...

Topics

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• Angelman Syndrome
• Exome Sequencing
• Gene Regulatory Networks
• Genetic Association Studies
• Heat-Shock Proteins
• Matrix Attachment Region Binding Proteins
• Receptors, Cytoplasmic and Nuclear
• Repressor Proteins

Identifiers and source

Literature Corpus work

792ea73d-8a3a-5a06-9ab9-fe59a2fd489a

DOI

10.1101/2020.07.16.206052