Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.

ABSTRACT:

Background and objectives

Malformations of cortical development (MCD), though individually rare, constitute a significant burden of disease. The diagnostic yield of next-generation sequencing (NGS) in these patients varies across studies and methods, and novel genes and variants continue to emerge.

Methods

Patients (n = 123) with a definite radiologic or histopathologic diagnosis of MCD, with or without epilepsy were included in this study. They underwent NGS-based targeted gene panel (TGP) testing, whole-exome sequencing (WES), or WES-based virtual panel testing. Selected patients who underwent epilepsy surgery (n = 69) also had somatic gene testing of brain tissue-derived DNA. We analyzed predictors of positive germline genetic finding and diagnostic yield of respective me

SUBMITTER: Straka B 

PROVIDER: S-EPMC9621608 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature