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Canalopatia Scn2a by José Manuel Caballero Caballero

Canalopatia Scn2a

by José Manuel Caballero Caballero
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Book cover type: Paperback
  • ISBN13: 9786209273476
  • Binding: Paperback
  • Subject: N/A
  • Publisher: Edizioni Sapienza
  • Publisher Imprint: Edizioni Sapienza
  • Publication Date:
  • Pages: 68
  • Original Price: GBP 38.19
  • Language: Italian
  • Edition: N/A
  • Item Weight: 105 grams
  • BISAC Subject(s): General

Le encefalopatie epilettiche e dello sviluppo rappresentano un complesso gruppo di disturbi neurologici ad esordio precoce, caratterizzati da gravi crisi epilettiche e da un compromesso sviluppo cognitivo e motorio. Tradizionalmente difficili da diagnosticare e trattare, queste sindromi hanno subito un cambiamento radicale grazie ai progressi della genetica, soprattutto con l'avvento del sequenziamento di nuova generazione (NGS). Oggi � noto che pi� del 50% dei casi ha una causa genetica identificabile, il che ha rivoluzionato l'approccio clinico, aprendo la strada a un approccio pi� preciso e personalizzato. Questo testo fornisce una visione aggiornata delle basi genetiche di queste malattie devastanti, del loro impatto multidimensionale e dei nuovi orizzonti nella diagnosi e nel trattamento.

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