P.100 Early recognition of unique conventional and amplitude-integrated EEG patterns and clinical semiology of neonatal seizures caused by SCN2A and KCNQ3 mutations

• Published in: Canadian journal of neurological sciences 2022-06, Vol.49 (s1), p.S34-S34
• Main Authors: Pijpers, JA, Au, PY, Weeke, L, Vein, AA, Smit, L, Vilan, AI, Jacobs, E, de Vries, LS, Steggerda, SJ, Peeters, CM, Appendino, J
• Format: Article
• Language: English
• Subjects: Clinical Neurophysiology (CSCN); Neurocritical Care; Poster Presentations
• ISSN: 0317-1671; 2057-0155
• DOI: 10.1017/cjn.2022.195

Background: Early recognition of neonatal seizures secondary to pathogenic variants in potassium or sodium channel coding genes is crucial, as these seizures are often resistant to commonly used anti-seizure medications, but respond well to sodium-channel blockers. We report a unique aEEG pattern in neonatal seizures caused by SCN2A and KCNQ3 pathogenic variants, as well as adding regular EEG description. Methods: International multicentre descriptive study, reporting clinical characteristics, aEEG and conventional EEG findings of 10 newborns with seizures due to pathogenic SCN2A and KCNQ3 gene variants. Results: Seizures started in the first postnatal week. Seizure semiology typically included tonic posturing with apnea and desaturation. The aEEG showed a characteristic sequence of brief onset with a decrease, followed by a quick rise, and then postictal amplitude attenuation. This pattern correlated with bilateral attenuation in the EEG at onset, followed by rhythmic discharges ending in several seconds of post-ictal amplitude suppression. The majority of patients became seizure free upon initiation of a sodium-channel blocker. Conclusions: Neonatal seizures caused by SCN2A and KCNQ3 mutations can be recognized by a characteristic ictal aEEG pattern and clinical semiology. Awareness of this pattern facilitates the prompt initiation of precision treatment with sodium-channel blockers even before genetic test results are available.