SCN2A CHANNELOPATHY

ISBN-13: 9786209330308 / Angielski / Miękka / 2025 / 64 str.

José Manuel Caballero Caballero

Opis

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.