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Showing 1–6 of 6 results
Advanced filters: Author: "Federico Zara" Clear advanced filters

  • A whole-exome sequencing study has identified a series of ultra-rare variants that provide a genetic link between common and rare epilepsy syndromes. This discovery could open up new possibilities for personalized treatment of common epilepsies.

    • Pasquale Striano
    • Federico Zara
    News & Views
    Nature Reviews Neurology
    Volume: 13, P: 200-201

  • This Case Study describes in detail a case of Lafora disease, from its earliest stages through the clinical progression, including detailed neurophysiological studies, diagnostic biopsy and autopsy.

    • Pasquale Striano
    • Federico Zara
    • Berge A Minassian
    Reviews
    Nature Clinical Practice Neurology
    Volume: 4, P: 106-111

  • Despite growing interest in both the clinical and scientific aspects of sudden unexpected death in epilepsy (SUDEP), knowledge about the disease mechanisms remains limited. The epileptic baboon—the first natural nonhuman primate model of SUDEP—offers a potential model to evaluate the genetic factors and pathophysiology underlying this mysterious condition.

    • Pasquale Striano
    • Federico Zara
    News & Views
    Nature Reviews Neurology
    Volume: 5, P: 639-640

  • Human leukocyte antigen (HLA) screening could identify patients at risk of adverse reactions to carbamazepine, one of the most commonly used anticonvulsants. A European genome-wide association study revealed strong correlations between HLA-A*3101 and carbamazepine hypersensitivity. In Taiwan, HLA-B*1502 screening led to significant reductions in the incidence of carbamazepine-induced adverse events.

    • Pasquale Striano
    • Federico Zara
    News & Views
    Nature Reviews Neurology
    Volume: 7, P: 365-366

  • Megalencephaly syndromes are a spectrum of severe developmental neurological disorders associated with brain overgrowth. Two recent studies highlight the pathogenic role of somatic mutations in genes of the mTOR signalling pathway in the brains of patients with these conditions, providing hope for development of new treatments.

    • Pasquale Striano
    • Federico Zara
    News & Views
    Nature Reviews Neurology
    Volume: 8, P: 542-544