Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy

Bibliographic Details
Title:	Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy
Authors:	Salinas, Valeria, Vega, Patricia, Piccirilli, María Victoria, Chicco, Carla, Ciraolo, Carlos, Christiansen, Silvia, Consalvo, Damián, Perez-Maturo, Josefina, Medina, Nancy, González-Morón, Dolores, Novaro, Virginia, Perrone, Cecilia, García, María del Carmen, Agosta, Guillermo, Silva, Walter, Kauffman, Marcelo
Source:	In European Journal of Medical Genetics November 2019 62(11)
Database:	ScienceDirect

More Details
ISSN:	17697212
DOI:	10.1016/j.ejmg.2018.11.005
Published in:	European Journal of Medical Genetics
Language:	English