November marks Epilepsy Awareness Month, a dedicated time to shed light on this chronic brain disorder that impacts approximately 50 million people worldwide, making it one of the most prevalent neurological conditions. Despite its widespread occurrence, epilepsy remains shrouded in misunderstandings and stigmas, often preventing patients from seeking timely diagnosis and care.

To address these challenges and contribute to advancing research and treatment, Genomenon has launched a disease awareness campaign focused on epilepsy. This initiative offers free access to expertly-curated variant insights for epilepsy-related genes, providing clinicians and researchers with the tools they need to drive innovation and enhance patient care.

The Blueprint of Epilepsy: Exploring Its Genetic Foundations

Epilepsy has a significant genetic component, with many genes playing critical roles in its onset and progression. These genes influence essential processes such as brain activity regulation, ion channel function, and neurotransmission. Variants in these genes can disrupt normal brain function, leading to the recurrent seizures that characterize epilepsy.

Seizures, caused by excessive electrical discharges in brain cells, can manifest in diverse ways. They range from brief lapses of attention or muscle jerks to severe and prolonged convulsions. Their frequency also varies widely, from less than one per year to multiple episodes per day. This variability makes epilepsy a highly complex disorder to diagnose and treat.

Identifying disease-causing genetic variants is a critical step in epilepsy care. Genetic insights can enable healthcare providers to:

‍

• Diagnose specific epilepsy subtypes with greater accuracy.
• Develop personalized treatment plans tailored to each patient’s genetic profile.
• Provide clearer prognostic information, helping patients and their families navigate the journey ahead.

The Role of Genetic Insights in Epilepsy Research

Genetic testing is transforming epilepsy diagnosis and treatment by enabling researchers to uncover the condition. Variants in genes such as KCNT1, SCN8A, ALDH7A1 etc. can pinpoint the specific subtype of epilepsy a patient may have, guiding tailored treatment strategies.

‍
For example:

• Variants in KCNT1 have been linked to early-onset epileptic encephalopathies, offering opportunities for targeted interventions.
• Insights into SCN8A can guide treatment in patients with severe developmental and epileptic encephalopathy.
• Genes like ALDH7A1 are associated with pyridoxine-dependent epilepsy, where early genetic diagnosis can lead to life-saving dietary or pharmacological adjustments.
‍

By offering free access to curated data, Genomenon aims to support clinicians and researchers in uncovering these critical connections, accelerating the path from discovery to patient impact.

‍

Genomenon’s Commitment to Advancing Epilepsy Research

As part of Epilepsy Awareness Month, we are spotlighting epilepsy-related disorders and providing free access to variant insights on  genes associated with epilepsy, including:
ALDH7A1, AP3B2, KCNT1, PLPBP, SCN3A, DEPDC5, SCN8A, ARV1, and DENND5A.

Through this initiative, we aim to support researchers by providing curated insights into these genes via our Mastermind Genomic Platform. This data is essential for advancing understanding and treatment of epilepsy.

Epilepsy Awareness Month is an opportunity to challenge misconceptions, raise awareness, and drive research forward. By providing free access to variant insights, Genomenon is proud to play a part in this journey. Together, let’s work toward a future where genomic insights pave the way for better outcomes for every epilepsy patient.

How to Access Our Free Variant Insights

The variant content for epilepsy-related genes is available to all Mastermind users throughout November. To access these insights:

1. Create a free Mastermind account here: Sign Up Here.
2. Explore curated data for the epilepsy-associated genes in the campaign.

‍

Join us in advancing epilepsy research—together, we can build a brighter future for the millions living with this condition.

‍