Managing Seizures and Treatment Options

Managing seizures in Developmental and Epileptic Encephalopathy 85 (DEE85) is often a complex, ongoing process. Because the epilepsy associated with SMC1A variants is typically drug-resistant (refractory), there is no single “best” medication that works for everyone ^[1][2]. Instead, treatment is tailored to your child’s specific seizure types and how they respond to different interventions.

Individualized Medication Management

Most children with DEE85 will try several Anti-Seizure Medications (ASMs). Because this condition is so rare, doctors choose medications based on your child’s Electroencephalogram (EEG) patterns and the types of seizures they are experiencing (such as focal seizures or tonic-clonic seizures) ^[1][3].

• Trial and Error: It is common to try multiple medications, either alone or in combination. Never stop or change ASMs abruptly on your own.
• Defining Resistance: If your child’s seizures continue after trying two appropriately chosen, tolerated, and adequately dosed medications used for their seizure type, their epilepsy is considered “drug-resistant” ^[4][5]. At this stage, standard guidelines recommend a referral to a Comprehensive Pediatric Epilepsy Center for more specialized care ^[4].

The Role of the Ketogenic Diet

The ketogenic diet is a medical, high-fat, low-carbohydrate diet that changes how the brain uses energy. It is often considered for children with drug-resistant epilepsy when medications are not enough ^[1].

• Evidence: Current research on the ketogenic diet specifically for DEE85 is still developing. One international study described its effectiveness as “uncertain” ^[1]. However, a smaller clinical report noted that a few patients had a good response when the diet was added to their existing medications ^[6].
• Supervision: It must not be started independently; it has contraindications and adverse effects and requires metabolic review. This diet must be strictly managed by a specialized medical team, including a neurologist and a dietitian, to monitor for side effects and ensure your child is getting proper nutrition.

Considering Epilepsy Surgery

Surgery is not usually the first thought for genetic epilepsies, but it may be an option in specific cases. However, children with drug-resistant focal epilepsy may warrant a comprehensive presurgical evaluation (including video-EEG) even when the MRI is normal. If a child has a focal structural abnormality (a specific “spot” or lesion) on their MRI that matches where the seizures are starting on an EEG, a surgical evaluation may be appropriate ^[7].

In some cases, palliative procedures like Vagus Nerve Stimulation (VNS) or corpus callosotomy may be discussed to help reduce the frequency or severity of seizures, even if they cannot be stopped entirely ^[8][4].

Rescue Medication and Safety

For children who experience seizure clusters (multiple seizures in a row) or status epilepticus (a seizure lasting more than 5 minutes), having a “rescue plan” is critical.

• Rescue Medications: You must use only the specific product, route, and weight-based dose prescribed by your doctor. These medications can cause sedation and respiratory depression ^[9][10].
• Action Plan: Your medical team should provide a written Seizure Action Plan that tells you exactly which medication to give, how much, and when to call for emergency services.

Future and Targeted Therapies

Currently, there are no approved treatments that “fix” the underlying SMC1A gene defect; all current treatments focus on managing symptoms ^[1]. However, scientists are exploring new molecular approaches:

• Ataluren: In laboratory cell studies, this drug has shown promise in restoring SMC1A protein levels in cells with “nonsense” mutations ^[11]. It is vital to understand that laboratory rescue of protein expression has not established clinical benefit. It is not an approved treatment and should not be pursued outside of approved research.
• Registries: Joining a natural history study or a rare disease registry (like the CoRDS registry) can help researchers learn more about DEE85 and may help your family find out about future clinical trials [NCT01793168][NCT07413211].