Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Egidio SpinelliKyle R ChristensenEmily BryantAmy SchneiderJennifer RakotomamonjyAlison M MuirJessica GiannelliRebecca O LittlejohnElizabeth R RoederBerkley SchmidtWilliam G WilsonElysa J MarcoKazuhiro IwamaSatoko KumadaTiziana PisanoCarmen BarbaAnnalisa VetroEva H BrilstraRichard H van JaarsveldNaomichi MatsumotoHadassa Goldberg-SternPatrick W CarneyP Ian AndrewsChristelle M El AchkarSamuel Frank BerkovicLance H Rodannull nullKirsty McWalterRenzo GuerriniIngrid E SchefferHeather C MeffordSimone MandelstamLinda LauxJohn J MillichapAlicia Guemez-GamboaAngus C NairnGemma Louise CarvillPublished in: Annals of neurology (2021)
In summary, we describe MAST3 as a novel epilepsy-associated gene with a potential gain-of-function pathogenic mechanism that may be primarily restricted to excitatory neurons in the cortex. ANN NEUROL 2021;90:274-284.