Precision medicine: Vinpocetine as a potential treatment for GABRG2‐related epilepsy

Abstract

AbstractIntroductionPathogenic variants of the GABRG2 gene, encoding a GABAA receptor subunit, have been associated with various epileptic syndromes and drug‐resistant epilepsy. Vinpocetine has been previously reported efficacious in a patient harboring a GABRB3 pathogenic variant, encoding another GABAA receptor subunit.Case presentationWe describe a patient with GABRG2‐related drug‐resistant epilepsy who improved after vinpocetine treatment. An 8‐year‐old boy with a family history of epilepsy was diagnosed with early onset absence epilepsy at 6 months of age and was treated unsuccessfully with sodium valproate and ethosuximide. At 6 years of age, he developed generalized tonic–clonic seizures and increasing absences despite lamotrigine add‐on as well as learning difficulties. Brain MRI was normal and video‐EEG telemetry showed multiple myoclonic absences. An epilepsy gene panel analysis showed a GABRG2 pathogenic variant, c.254 T > A p.(Ile85Lys) (NM_198903.2), inherited from the proband's father. Seizures were resistant to several medications. After treatment with vinpocetine add‐on, the patient showed a dramatic initial response, further reduction of seizures, and improvement of his cognitive functions.ConclusionThis case illustrates that vinpocetine could be considered in drug‐resistant epilepsies related to GABRG2 in accordance with the principles of precision medicine.