Article
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Annals of neurology - 1 Aug 2021
Spinelli Egidio, Christensen Kyle R, Bryant Emily, Schneider Amy, 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 W, 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
Abstract excerpt
OBJECTIVE: The MAST family of microtubule-associated serine-threonine kinases (STKs) 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. METHODS: Using exome sequencing, we identify MAST3...
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