Early life seizures and epileptic spasms in STXBP1-related disorders.
Kim M ThalwitzerJulie XianDanielle M DeCampoShridhar ParthasarathyJan MagielskiKatie Rose SullivanJames GossCharlene Son RigbyMichael J BolandBenjamin L ProsserSarah M RuggieroSteffen SyrbeIngo HelbigPublished in: Epilepsia (2024)
We provide a comprehensive assessment of early onset seizures in STXBP1-DEE and show that the risk of epileptic spasms is not increased following a prior history of early life seizures, nor by certain ASMs. Our study provides baseline information for targeted treatment and prognostication in early life seizures in STXBP1-DEE.