A multi-disciplinary clinic for SCN8A-related epilepsy

Area of Science:

• Neurology
• Genetics
• Epileptology

Background:

• SCN8A gene variants are linked to epilepsy.
• Understanding the clinical spectrum of SCN8A-related epilepsy is crucial for patient management.

Purpose of the Study:

• To evaluate a cohort of patients with SCN8A-related epilepsy.
• To establish a bio-repository for future research.
• To characterize the epilepsy phenotype, developmental outcomes, and treatment responses.

Main Methods:

• Recruited SCN8A epilepsy patients through a specialized clinic and patient organizations.
• Collected data via medical records, EEG/MRI review, clinical evaluations, and the Vineland Adaptive Behavior Scales (VABS-3).
• Established a bio-repository including DNA extraction and peripheral blood mononuclear cell preparation.

Main Results:

• Seventeen patients (9 months - 19 years) were evaluated.
• Epilepsy phenotypes ranged from mild to severe developmental and epileptic encephalopathy.
• Levetiracetam worsened seizures/development in 7/16 patients (p < 0.05); voltage-gated sodium channel medications were often effective.
• Most patients exhibited below-average VABS-3 scores, with older children scoring lower.
• Common neurological findings included hypotonia, ataxia, and movement disorders.

Conclusions:

• This is the first large series of SCN8A-related epilepsy patients evaluated in a multidisciplinary clinic.
• The study clarifies seizure types, developmental patterns, and identifies distinct phenotypes.
• Clinical worsening with levetiracetam and common neurological findings were demonstrated.