Is genetic aetiology an absolute contraindication for epilepsy surgery? Description of two patients with focal genetic epilepsy who underwent presurgical study
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In an era in which genetic panels are widely available, a growing number of lesional focal epilepsy cases, classically considered acquired, have been proven to have a genetic aetiology. Surgical anecdotal cases of focal genetic epilepsy have been reported but the prognostic value of a genetic aetiology is still uncertain, due to the lack of long follow-up data. From preliminary studies it seems that SCN1A epilepsy is associated with a bad surgical outcome, while DEPDC5 related epilepsy could be improved by a surgical approach. We reported the cases of two patients with focal epilepsy due to SCN1A and DEPDC5 mutations who underwent pre-surgical evaluation. Patient 1, despite suffering from SCN1A-related epilepsy, had a good surgical outcome, while patient 2 with DEPDC5-related focal epilepsy was unsuitable for surgery. In our opinion genetic aetiology may not be an absolute contraindication for surgery; phenotypic expression and a personalized pre-surgical workup could help to select which patients could benefit from surgery.
KEY WORDS: genetic epilepsy surgery, SCN1A, DEPDC5, focal cortical dysplasia, hippocampus sclerosis.