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612-822-4611
Scn2a Channelopathy

Scn2a Channelopathy

Paperback

Medical Reference

ISBN10: 6209330304
ISBN13: 9786209330308
Publisher: Our Knowledge Publishing
Published: Dec 12 2025
Pages: 64
Weight: 0.22
Height: 0.15 Width: 6.00 Depth: 9.00
Language: English
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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Caballero Caballero, José Manuel

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Medical Reference