International SCN8A Alliance Logo

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

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
SCN8A Prognosis Prognosis Limited Change to Improvement
First Symptom
Seizures/Seizures and Developmental Delays occur about the same time (Strong)
Developmental Delay Onset
0 – 6 months (Strong)
EEG
Although initial EEG may be normal, it typically becomes abnormal after epilepsy onset and remains so through the course of epilepsy. (Moderate)
MRI
The initial MRI is frequently normal, but may become abnormal over time (often demonstrating atrophy). (Moderate)
Age of Development Delay Onset
0 – 6 months (Moderate)
Likely Function of Variant
Gain-of-Function (Moderate)

introduce the accordion here

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

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.