Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.

Summary: Imagine your brain as a complex city being built. The CELSR1 gene acts like a master blueprint that tells the brain cells exactly where to go and how to connect. When this blueprint has mistakes (mutations) inherited from both parents, the brain's "city" doesn't build correctly. Researchers recently studied seven patients from five different families who had these rare blueprint mistakes. They found that these patients had brain malformations, learning delays, and sometimes seizures. To prove this gene was the cause, scientists created mice missing the CELSR1 gene, and those mice developed the exact same brain problems! This discovery helps us finally understand the root cause of this rare brain disorder.