Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Egidio Spinelli,Kyle R. Christensen,Emily Bryant,Amy Schneider,Jennifer Rakotomamonjy,Alison M. Muir,Jessica Giannelli,Rebecca O. Littlejohn,Elizabeth R. Roeder,Berkley Schmidt,William G. Wilson,Elysa J. Marco,Kazuhiro Iwama,Satoko Kumada,Tiziana Pisano,Carmen Barba,Annalisa Vetro,Eva H. Brilstra,Richard H. Jaarsveld,Naomichi Matsumoto,Hadassa Goldberg-Stern,Patrick W. Carney,P. Ian Andrews,Christelle M. El Achkar,Sam Berkovic,Lance H. Rodan,Kirsty McWalter,Renzo Guerrini,Ingrid E. Scheffer,Heather C. Mefford,Simone Mandelstam,Linda Laux,John J. Millichap,Alicia Guemez-Gamboa,Angus C. Nairn,Gemma L. Carvill Annals of Neurology（2021）
Key words
Exome Sequencing
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