P.100 Early recognition of unique conventional and amplitude-integrated EEG patterns and clinical semiology of neonatal seizures caused by SCN2A and KCNQ3 mutations
نویسندگان
چکیده
Background: Early recognition of neonatal seizures secondary to pathogenic variants in potassium or sodium channel coding genes is crucial, as these are often resistant commonly used anti-seizure medications, but respond well sodium-channel blockers. We report a unique aEEG pattern caused by SCN2A and KCNQ3 variants, adding regular EEG description. Methods: International multicentre descriptive study, reporting clinical characteristics, conventional findings 10 newborns with due gene variants. Results: Seizures started the first postnatal week. Seizure semiology typically included tonic posturing apnea desaturation. The showed characteristic sequence brief onset decrease, followed quick rise, then postictal amplitude attenuation. This correlated bilateral attenuation at onset, rhythmic discharges ending several seconds post-ictal suppression. majority patients became seizure free upon initiation blocker. Conclusions: Neonatal mutations can be recognized ictal semiology. Awareness this facilitates prompt precision treatment blockers even before genetic test results available.
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences
سال: 2022
ISSN: ['2057-0155', '0317-1671']
DOI: https://doi.org/10.1017/cjn.2022.195