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portada Scn2a Channelopathy
Type
Physical Book
Publisher
Author
Language
English
Pages
64
Format
Paperback
Dimensions
22.9x15.2x0.4 cm
ISBN13
9786209330308

Scn2a Channelopathy

Caballero Caballero, José Manuel (Author) · Our Knowledge Publishing · Paperback

Scn2a Channelopathy - Caballero Caballero, José Manuel

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Synopsis "Scn2a Channelopathy"

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.

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