SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy.

ABSTRACT:

Background

Developmental and epileptic encephalopathy (DEE) is a group of neurodevelopmental disorders characterized by early-onset seizures predominantly attributed to genetic causes. Nevertheless, numerous patients remain without identification of a genetic cause.

Methods

We present four unrelated Chinese patients with SPOUT1 compound heterozygous variants, all of whom were diagnosed with DEE. We also investigated functions of SPOUT1 using the spout1 knockout zebrafish model.

Results

The four unrelated DEE patients with SPOUT1 compound heterozygous variants were all males. Their onset age of seizure ranged from 3 months to 6 months (median age 5 months). All patients had epileptic spasms, and were diagnosed with infantile epileptic spasms syndrome (IESS). Three pati

SUBMITTER: Liu W 

PROVIDER: S-EPMC11960386 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature