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 | 4-12 Months | |
| Developmental Delay Onset | 5-24 Months | |
| Seizure Types | Focal, Generalized | |
| Clinical Features | Delayed Motor Abilities and Language, Some Cognitive Understanding | |
| Seizure Freedom | Some of the Time | |
| Prognosis | Limited Change to Improvement |
Seizure Onset
4 – 12 Months
Developmental Delay Onset
5-24 Months
Seizure Types
Focal, Generalized
Clinical Features
Delayed Motor Abilities and Language, Some Cognitive Understanding
Seizure Freedom
Some of the Time
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 |
Clincal Features
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.
Seizure Types
GTCS and Focal seizures were the only two seizure types with strong consensus among clinicians. Presence of GTS seizures had moderate consensus.
Prognosis
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.
Rescue Medications
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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.