Exploring SCN8A Phenotypes: Diagnosis and Treatment

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.

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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

Key Features of DEE

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)

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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

Prognosis

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.