Treatment Mechanism Found for Autistic Epilepsy Patients with Ank2 Deficiency

June 29, 2023

Article Published by Korea Biomedical Review

A team of researchers from the Institute for Basic Science (IBS) said they identified a new pathogenesis and treatment strategy for autistic patients with epilepsy lacking the Ank2 gene. 
 
Autism spectrum disorder (ASD) is characterized by deficits in social interaction and communication, and repetitive behaviors. It is often accompanied by several co-morbidities, and about 30 percent of patients have epilepsy. Additionally, people with epilepsy are about eight times more likely to be diagnosed with autism than the general population. This suggests that the two disorders may share similar genetic variations. 
 
The prevalence of ASD continues to rise worldwide but the pathogenesis and treatment remain poorly understood. 
 
Accordingly, the study led by Professor Kim Eun-joon of the IBS Center for Synaptic Brain Dysfunctions showed how epilepsy develops in a mouse model lacking the gene ANK2, which is a genetic risk factor for autism and epilepsy.  
 
The researchers identified increased excitability of cortical neurons in Ank2-deficient mice, which may be because Ank2 deficiency causes cortical neurons to lose their initial segment of the axon.