Auflistung nach Autor "Napolitano, Antonio"

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  • Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition 
    Trivisano, Marina; Rivera, Manuel; Terracciano, Alessandra; Ciolfi, Andrea; Napolitano, Antonio; Pepi, Chiara; Calabrese, Costanza; Digilio, Maria Cristina; Tartaglia, Marco; Curatolo, Paolo; Vigevano, Federico; Specchio, Nicola (Academic Press, 2020-07)
    Seizure threshold 2 (SZT2) gene mutations have been associated with developmental and epileptic encephalopathies (DEEs). Following a literature review, we collected 22 patients and identified the main clinical features ...

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