Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy

Abstract

Introduction CEP152 encodes protein Cep152, which associates with centrosome function. The lack of Cep152 can cause centrosome duplication to fail. CEP152 mutates, causing several diseases such as Seckel syndrome-5 and primary microencephaly-9.

Keywords

• CEP152
• compound-heterozygous
• variants
• phenotypes
• WES
• Sanger sequencing