Early life seizures and epileptic spasms in STXBP1‐related disorders

• DOI: 10.1111/epi.17886
• Publication Date: 2024-01-27T13:30:00Z
• Authors: Kim M. Thalwitzer; Julie Xian; Danielle de Campo; Shridhar Parthasa...; Jan Magielski; Katie R. Sullivan; James Goss; Charlene Son Rigby; Michael Boland; Ben Prosser; Sarah M. Ruggiero; Steffen Syrbe; Ingo Helbig
• Keywords: Epileptic spasms; Lennox–Gastaut syndrome; Seizure types

Individuals with disease-causing variants in STXBP1 frequently have epilepsy onset the first year of life a variety seizure types, including epileptic spasms. However, impact early seizures and antiseizure medication (ASM) on risk developing spasms their trajectory are poorly understood, limiting informed anticipatory treatment, as well trial design.