Reprint of: Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders

The APC2 gene (OMIM *612034, also known as APCL) is widely expressed in the brain, predominantly in the cortex and hippocampus. It encodes adenomatous polyposis coli protein-2 (APC2), primarily distributed along actin fibers and microtubules throughout the neurites, growth cones, and cell bodies [1]. As involved in promoting microtubule dynamics and controlling dendritic development [1,2], APC2 plays an important role in regulating neuronal migration and axon guidance. In mice, homozygous knock-out of Apc2 caused impaired neuronal migration, growth retardation, and resulted in seizure behaviors [3], suggesting pathogenic roles in brain malformations and epilepsy.
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Source Type: research