PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes.

Abstract excerpt

BACKGROUND: The PACS gene family has been demonstrated to be related to intracellular vesicular trafficking. The phenotypic manifestations caused by the pathogenic variants of PACS include epilepsy, intellectual disability/developmental delay, and malformations, such as facial abnormalities. METHODS: We identified seven new cases with pathogenic or likely pathogenic PACS variants using next-generation sequencing....

Topics

Join the communities discussing this publication.

• DNA Copy Number Variations
• Epilepsy
• Genotype
• Intellectual Disability
• Phenotype