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Clinical Cases and Reviews in Epilepsy

Is genetic aetiology an absolute contraindication for epilepsy surgery? Description of two patients with focal genetic epilepsy who underwent presurgical study

Brief report/Clinical case, 37 - 42
doi: 10.11138/ccre/2017.2.1.037
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Abstract
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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.

Vol. 2 (No. 1) 2017 Janaury - December

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  1. Is genetic aetiology an absolute contraindication for epilepsy surgery? Description of two patients with focal genetic epilepsy who underwent presurgical study
    Ferri L., Bisulli F., Mai R., Lichetta L., Leta C., Nobili L., Muccioli L., Mostacci B., Pippucci T., Tinuper P.
    doi: 10.11138/ccre/2017.2.1.037
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