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
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
Author:
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