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Below you will find information on how the modified Delphi process works, who was involved and how we measured consensus.

Building Consensus on SCN8A

Consensus was built using a rigorous scientific process called the Delphi method, which brought together SCN8A experts and families from across the globe. This process ensures that the agreed-upon approaches to diagnosing and treating SCN8A are thoughtful, comprehensive, and represent the best collective knowledge available. Watch this short video to better understand the process of keep reading below. 

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Core Panel

Table info

We are very grateful for physicians and families across the globe who worked with dedication to complete the modified Delphi process

Leadership Team

Core Panel

Review Panel

The following table includes the experts who generously gave their time to consult on comorbidities and SCN8A.

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)
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
Comorbidities >50% Estimated Frequency Severity Level Change Over Time
Neurological Level of Consensus Severe Moderate Mild No Impairment Level of Consensus Worsen Stable Mixed Improve Resolve Level of Consensus
Fine Motor Delays Strong Moderate Moderate
Gross Motor Delays
Movement Disorders
Hypotonia Moderate
Cortical Blindness/CVI
Autonomic Dysfunction
Sleep Disturbances
SUDEP Risk
DD/ID/Cognitive
Speech/Communication Delays
Intellectual Disability (ID)
Behavioral Dysregulation
Emotional Dysregulation
Autism Spectrum Disorder (ASD)
Organ Systems
Orthopedic Issues
Gastrointestinal (GI)
Feeding Moderate
Pulmonary
Severe DEE Significant Deterioration Modest Deterioration Limited Change Moderate Improvement Significant Improvement Level of Consensus
Epilepsy
Cognition
Development

– 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.