Catálogo de publicaciones - revistas
Annual Review of Pharmacology and Toxicology
Resumen/Descripción – provisto por la editorial
No disponible.
Palabras clave – provistas por la editorial
Science-Chemistry-Toxicology
Disponibilidad
Institución detectada | Período | Navegá | Descargá | Solicitá |
---|---|---|---|---|
No detectada | desde abr. 1993 / hasta dic. 2023 | Annual Reviews |
Información
Tipo de recurso:
revistas
ISSN impreso
0362-1642
ISSN electrónico
1545-4304
Editor responsable
Annual Reviews Inc.
País de edición
Estados Unidos
Fecha de publicación
1976-
Cobertura temática
Tabla de contenidos
Precision Medicine Approaches for Infantile-Onset Developmental and Epileptic Encephalopathies
Kenneth A. Myers; Ingrid E. Scheffer
<jats:p> Epilepsy is an etiologically heterogeneous condition; however, genetic factors are thought to play a role in most patients. For those with infantile-onset developmental and epileptic encephalopathy (DEE), a genetic diagnosis is now obtained in more than 50% of patients. There is considerable motivation to utilize these molecular diagnostic data to help guide treatment, as children with DEEs often have drug-resistant seizures as well as developmental impairment related to cerebral epileptiform activity. Precision medicine approaches have the potential to dramatically improve the quality of life for these children and their families. At present, treatment can be targeted for patients with diagnoses in many genetic causes of infantile-onset DEE, including genes encoding sodium or potassium channel subunits, tuberous sclerosis, and congenital metabolic diseases. Precision medicine may refer to more intelligent choices of conventional antiseizure medications, repurposed agents previously used for other indications, novel compounds, enzyme replacement, or gene therapy approaches. </jats:p>
Palabras clave: Pharmacology; Toxicology.
Pp. 641-662