SCAF4 variants are associated with epilepsy with neurodevelopmental disorders

Genetic factors are accepted as one of the main causes of epilepsy. Many genes are associated with epilepsy (Devinsky [4]). However, the genetic causes of epilepsy in most patients remain unknown. Accurate regulation of mRNA processing is necessary for correct gene expression. Variants in several genes and proteins involved in mRNA processing have been implicated in human diseases (Haijes [10]) including epilepsy (Evans [5], Giacomini [8]). SCAF4 (OMIM*616023) encodes serine- and arginine-rich proteins related to carboxy-terminal domain-associated factor 4, which is a member of the serine/arginine-rich splicing factor family.

0