Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development

Malformations of cortical developments (MCDs) comprise phenotypically heterogeneous conditions, which can be caused by germline or somatic mutations in a variety of genes. However, the diagnostic value of genetic testing in blood still remains to be elucidated. Here, we used targeted gene sequencing to identify MCDs caused by germline mutations and characteristics associated with pathogenic mutations.

Source: Pediatric Neurology - July 25, 2019 Category: Neurology Authors: Sangbo Lee, Se Hee Kim, Borahm Kim, Seung-Tae Lee, Jong Rak Choi, Heung Dong Kim, Joon Soo Lee, Hoon-Chul Kang Tags: Research Paper Source Type: research