Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.
Barbora BenovaBarbora HermanovskaLenka KrskovaJosef ZamecnikMarketa VlckovaMiroslava BalascakovaPavel TesnerPetr JezdikMichal TichyMartin KynclAlena MusilovaPetra LassuthovaPetr MarusicPavel KrsekPublished in: Neurology. Genetics (2022)
In this study, we are reporting genetic findings of a large cohort of MCD patients with epilepsy or potentially epileptogenic MCD. We determine predictors of successful ascertainment of a genetic diagnosis in real-life setting and report novel, likely pathogenic variants in MCD and non-MCD genes alike.
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