May 5, 2021

Genetic Associations of Neurodevelopmental Disorders with Epilepsy in Adults

Summary, originally published on

Often, genetic diagnostics of neurodevelopmental disorders with epilepsy (NDDE) focus largely on children, leaving a scarcity of data regarding adult patients. A study published in Genetics in Medicine analyzed genetic associations of NDDE in adults and elderly patients.

A total of 150 patients with NDDE underwent conventional karyotyping, FMR1 testing, chromosomal microarray, and panel sequencing. When cases remained unresolved, exome sequencing was performed.

“Panel/exome sequencing displayed the highest yield and should be considered as first-tier diagnostics in NDDE. This high yield and the numerous indications for additional screening or treatment modifications arising from genetic diagnoses indicate a current medical undersupply of genetically undiagnosed adult/elderly individuals with NDDE. Moreover, knowledge of the course of elderly individuals will ultimately help in counseling newly diagnosed individuals with NDDE,” the study authors concluded.

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