Scn2a Channelopathy

By: Caballero Caballero, José Manuel

Epileptic and developmental encephalopathies represent a complex group of early-onset neurological disorders characterized by severe seizures and impaired cognitive and motor development. Traditionally difficult to diagnose and treat, these syndromes have undergone a radical change thanks to advances in genetics, especially with the advent of massive next-generation sequencing (NGS). It is now known that more than 50% of cases have an identifiable genetic cause, which has revolutionized the clinical approach, opening the way to a more precise and personalized approach. This text offers an updated view on the genetic basis of these devastating diseases, their multidimensional impact and the new horizons in diagnosis and treatment.

• Format: Paperback
• Language: English
• ISBN: 6209330304
• ISBN13: 9786209330308
• Release Date: December 2025
• Publisher: Our Knowledge Publishing
• Length: 64 Pages
• Weight: 0.22 lbs.
• Dimensions: 0.1" x 6.0" x 9.0"