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-Reference-Cited by-同舟云学术

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

Published:2019-11 Issue:11 Volume:62 Page:103571
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference22 articles.

1. Malformations of cortical development and Epilepsy;Barkovich;Cold. Spring. Harb. Perspect. Med.,2015

2. Malformations of cortical development and epilepsies: neuropathological findings with emphasis on focal cortical dysplasia;Blümcke;Epileptic Disord.,2009

3. Whole exome sequencing in neurogenetic odysseys: an effective, cost- and time-saving diagnostic approach;Córdoba;PloS One,2018

4. Hemimegalencephaly. Pediatric Neurosurgery;Di Rocco,1999

5. Somatic mosaicism in the human genome;Freed;Genes,2014

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