Pathogenic MAST3 variants in the STK domain are associated with epilepsy

Spinelli, Egidio; Christensen, Kyle R; Bryant, Emily; Schneider, Amy; Gencouns, M; Rakotomamonjy, Jennifer; Muir, Alison M; Giannelli, Jessica; Littlejohn, Rebecca O; Roeder, Elizabeth R; Schmidt, Berkley; Wilson, William G; Marco, Elysa J; Iwama, Kazuhiro; Kumada, Satoko; Pisano, Tiziana; Barba, Carmen; Vetro, Annalisa; Brilstra, Eva H; van Jaarsveld, Richard H; Matsumoto, Naomichi; Goldberg-Stern, Hadassa; Carney, Patrick; Andrews, P Ian; El Achkar, Christelle M; Berkovic, Sam; Rodan, Lance H; Mcwalter, Kirsty; Guerrini, Renzo; Scheffer, Ingrid E; Mefford, Heather C; Mandelstam, Simone; Laux, Linda; Millichap, John J; Guemez-Gamboa, Alicia; Nairn, Angus C; Carvill, Gemma L

doi:10.1002/ana.26147

The MAST family of microtubule-associated serine-threonine kinases (STK) have distinct expression patterns in the developing and mature human and mouse brain. To date, only MAST1 has been conclusively associated with neurological disease, with de novo variants in individuals with a neurodevelopmental disorder, including a mega corpus callosum.

Pathogenic MAST3 variants in the STK domain are associated with epilepsy / Spinelli, Egidio; Christensen, Kyle R; Bryant, Emily; Schneider, Amy; GenCouns, M; Rakotomamonjy, Jennifer; Muir, Alison M; Giannelli, Jessica; Littlejohn, Rebecca O; Roeder, Elizabeth R; Schmidt, Berkley; Wilson, William G; Marco, Elysa J; Iwama, Kazuhiro; Kumada, Satoko; Pisano, Tiziana; Barba, Carmen; Vetro, Annalisa; Brilstra, Eva H; van Jaarsveld, Richard H; Matsumoto, Naomichi; Goldberg-Stern, Hadassa; Carney, Patrick; Andrews, P Ian; El Achkar, Christelle M; Berkovic, Sam; Rodan, Lance H; McWalter, Kirsty; Guerrini, Renzo; Scheffer, Ingrid E; Mefford, Heather C; Mandelstam, Simone; Laux, Linda; Millichap, John J; Guemez-Gamboa, Alicia; Nairn, Angus C; Carvill, Gemma L. - In: ANNALS OF NEUROLOGY. - ISSN 0364-5134. - ELETTRONICO. - (2021), pp. 0-0. [10.1002/ana.26147]