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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

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