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The Journal of Clinical Investigation|July 16, 2026
Epilepsy-associated digenic variants affecting an actin-mitochondria-glutamate pathway promote seizure susceptibilityShenzhao Lu, Mengqi Ma, Shabab B Hannan, et al.American Journal of Human Genetics|November 22, 2022
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanismShridhar Parthasarathy, Sarah McKeown Ruggiero, Antoinette Gelot, et al.Epilepsia|March 8, 2026
Genetic testing for familial epilepsies: Diagnostic yield and genetic findingsColin A Ellis, Juliette Copeland, Isabella Velez, et al.Pageof 3