Genetic testing

Sharp Waves episodes:

Genetic testing in epilepsy: Who, how, and why? Dr. Ilona Krey

Genetic testing for epilepsy surgery: Dr. Patrick Moloney

Finding epilepsy genes: Dr. Allan Bayat

Genetic testing in low-resource regions: Initiatives in Africa

Epilepsia and Epilepsia Open articles:

The importance of routine genetic testing in pediatric epilepsy surgery. (Epilepsia Open 2024) Open access

Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE. (Epilepsia Open 2024) Open access

Factors impacting time to genetic diagnosis for children with epilepsy. (Epilepsia Open 2024) Open access

Early genetic testing in pediatric epilepsy: Diagnostic and cost implications. (Epilepsia Open 2023) Open access

The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing. (Epilepsia Open 2023) Open access

Genetic testing for the epilepsies: A systematic review (Epilepsia 2021)

Epileptic Disorders articles:

Current practice in diagnostic genetic testing of the epilepsies. Epileptic Disord. 2022 Oct 1;24(5):765-786. Open access

Neonatal/infantile-onset genetic epilepsies: The utility of genetic testing for molecular etiology-specific diagnosis concerning therapeutic implications. Epileptic Disord. 2025 Jun;27(3):397-406.

The role of genetic testing in adult patients with unexplained epilepsy. Epileptic Disord. 2024 Dec;26(6):814-826.

A retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0-12 years aged children at a single tertiary care hospital in South India. Epileptic Disord. 2024 Oct;26(5):609-625.

Predictive factors of genetic diagnosis and real-life impact of next-generation sequencing for children with epilepsy. Epileptic Disord. 2023 Oct;25(5):724-730.