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Mild/Moderate DEE

Explore Mild/Moderate DEE is a SCN8A phenotype defined by developmental progress and cognitive advancements, promising a journey of growth and resilience.

Mild/Moderate DEE

Mild/Moderate Developmental and Epileptic Encephalopathy (DEE) represents a SCN8A phenotype where individuals exhibit neurological delays, developmental diversities, and cognitive impairments, albeit with a generally less severe presentation than in Severe DEE. There’s a consensus on improvements in motor skills, sleep disturbances, speech, and intellectual development. This prognosis offers a hopeful perspective, with many patients experiencing advancements in their condition over time, underscoring the potential for positive development and adaptation.

Seizure Onset Seizure Onset 4-12 Months
Developmental Delay Onset Developmental Delay Onset 5-24 Months
Seizure Type Seizure Types Focal, Generalized
Clinical Features Clinical Features Delayed Motor Abilities and Language, Some Cognitive Understanding
Seizure Freedom Seizure Freedom Some of the Time
SCN8A Prognosis Prognosis Limited Change to Improvement
Seizure Onset

Seizure Onset

4 – 12 Months

Developmental Delay Onset

Developmental Delay Onset

5-24 Months

Seizure Type

Seizure Types

Focal, Generalized

Clinical Features

Clinical Features

Delayed Motor Abilities and Language, Some Cognitive Understanding

Seizure Freedom

Seizure Freedom

Some of the Time

Prognosis

Prognosis

Limited Change to Improvement

 
Treatment

Optimal first-line medications

Oxcarbazepine, Carbamazepine

Medications to be cautious of

Levitracitacitam

Important considerations

Gain-of-function (GOF) variants are more common, so sodium channel blockers are preferred. Levetiracetam may worsen seizures and is generally avoided in patients with GOF variants. Ketogenic diet can be helpful

Rescue Medication

IV phenytoin or phenytoin are recommended for status epilepticus

This table shows consensus levels for severity and expected change over time among common comorbidities. Compared with severe DEE, mild/moderate DEE comorbidities are less severe, however most Cognition/ID comorbidities are expected to progress similarly or worse than severe DEE.

GTCS and Focal seizures were the only two seizure types with strong consensus among clinicians. Presence of GTS seizures had moderate consensus.

With mild/moderate DEE, epilepsy is expected to improve, developmental levels are also expected to remain stable or improve. While there is moderate consensus that cognition may deteriorate, some kids may experience moderate improvement.

Keep Exploring 

IMPORTANT: While this consensus data provides new and valuable insights about best practices in the diagnosis and treatment of SCN8A, this is not medical advice. It can inform clinicians and caregivers alike in developing optimal treatment plans for each individual.

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