Antiseizure drugs (ASDs) prevent the occurrence of seizures; there is no evidence that they
have disease-modifying properties. In the more than 160 years that orally administered …

Progranulin (PGRN, encoded by the GRN gene) plays a key role in the development,
survival, function, and maintenance of neurons and microglia in the mammalian brain. It …

Epilepsy is a common brain disorder, characterized by spontaneous recurrent seizures, with
associated neuropsychiatric and cognitive comorbidities and increased mortality. Although …

In recent years, enzymes have risen as promising therapeutic tools for different pathologies,
from metabolic deficiencies, such as fibrosis conditions, ocular pathologies or joint …

Simple Summary We review the value of large animal models for improving the translation of
biomedical research for human application, focusing primarily on sheep. Abstract An …

In recent years, gene therapy has been raising hopes toward viable treatment strategies for
rare genetic diseases for which there has been almost exclusively supportive treatment. We …

Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated
with inborn errors of metabolism, such as disorders of amino acid metabolism and transport …

Objective Molecular genetic etiologies in epilepsy have become better understood in recent
years, creating important opportunities for precision medicine. Building on these advances …

Ceroid lipofuscinosis neuronal protein 5 (Cln5) is encoded by the CLN5 gene. The genetic
variants of this gene are associated with the CLN5 form of Batten disease. Recently, the first …

Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal
storage diseases that together represent the most common cause of dementia in children …