Are mutations linked to epilepsy also associated with autism?

PostedNovember 20, 2025

UpdatedNovember 20, 2025

ByMy Patient Advice

Author: Lucia Alvarez, MSc | Reviewed by: Dr. Rebecca Fernandez, MBBS

Yes, many epilepsy mutations have also been linked to an increased autism risk, highlighting the shared genetic landscape between the two conditions. Both epilepsy and autism affect brain development and function, and mutations in certain neurological genes can disrupt the delicate balance of brain signalling involved in cognition, behaviour and motor control.

Genes such as SCN2A, SYNGAP1 and MECP2 are known to play roles in both epilepsy and autism. These mutations often affect ion channels or synaptic proteins that regulate how neurons communicate. As a result, they may contribute to seizures, learning difficulties and social communication challenges. The overlap is particularly common in early-onset epilepsy syndromes, where children are also more likely to show autistic traits. This genetic connection is helping researchers better understand why the two conditions frequently co-occur.

How Epilepsy-Linked Mutations Contribute to Autism

Here are two ways epilepsy mutations may influence autism development:

Disrupt neural signalling pathways

Mutations in key genes can cause overactive or underactive neuronal firing, which may lead to both seizures and changes in behaviour. This can impact language development, emotional regulation and social interaction, core areas affected in autism.

Increase susceptibility through shared genetic mechanisms

Both autism and epilepsy often run in families, suggesting inherited neurological genes may predispose individuals to both conditions. These genes may also interact with environmental factors to influence developmental outcomes.

Understanding the link between epilepsy mutations and autism risk allows for more integrated care and targeted early interventions. Visit providers like Autism Detect for personal consultations and further guidance on screening and support.

For a deeper dive into the science, diagnosis and full treatment landscape, read our complete guide to Genetic Influences.

Lucia Alvarez, MSc

Author

Lucia Alvarez is a clinical psychologist with a Master’s in Clinical Psychology and extensive experience providing evidence-based therapy and psychological assessment to children, adolescents, and adults. Skilled in CBT, DBT, and other therapeutic interventions, she has worked in hospital, community, and residential care settings. Her expertise includes grief counseling, anxiety management, and resilience-building, with a strong focus on creating safe, supportive environments to improve mental well-being.

All qualifications and professional experience stated above are authentic and verified by our editorial team. However, pseudonym and image likeness are used to protect the author's privacy.

Dr. Rebecca Fernandez, MBBS

Reviewer

Dr. Rebecca Fernandez is a UK-trained physician with an MBBS and experience in general surgery, cardiology, internal medicine, gynecology, intensive care, and emergency medicine. She has managed critically ill patients, stabilised acute trauma cases, and provided comprehensive inpatient and outpatient care. In psychiatry, Dr. Fernandez has worked with psychotic, mood, anxiety, and substance use disorders, applying evidence-based approaches such as CBT, ACT, and mindfulness-based therapies. Her skills span patient assessment, treatment planning, and the integration of digital health solutions to support mental well-being.

All qualifications and professional experience stated above are authentic and verified by our editorial team. However, pseudonym and image likeness are used to protect the reviewer's privacy.