SCN2A CHANNELOPATHY - Caballero Caballero, José Manuel
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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…mehr

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Produktbeschreibung
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.
Autorenporträt
Brief biography (2-4 lines): Degree in Medicine from UMU (2009-2015). Specialization in Pediatrics and its specific areas at Hospital Universitario La Paz (Madrid) (2016-2020). Sub-specialization in Child Neurology. Currently Specialist Specialist in Pediatrics, Hospital General Universitario Santa Lucía, Cartagena.