Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy.
Harrison AG, Magielski JH, McSalley I, Ganesan S, Prentice AJ, Cunningham KG, Pierce SR, Boland MJ, Prosser BL, Helbig I, McKee JL.
Epilepsia. 2025 Sep;66(9):3505-3515. doi: 10.1111/epi.18469. PMID: 40407699.