The current understanding of neurological diseases is derived mostly from direct analysis of
patients and from animal models of disease. However, most patient studies do not capture …

Gene–environment interactions begin at conception to influence maternal/placental/fetal
triads, neonates, and children with short-and long-term effects on brain development. Life …

Epilepsy is a multifaceted neurological syndrome characterized by recurrent, spontaneous,
and synchronous seizures. The pathogenesis of epilepsy, known as epileptogenesis …

Background: Epileptic encephalopathies (EEs) are a pediatric entity with highly phenotypic
and genetic heterogeneity. Both single nucleotide variants (SNVs)/Indels and copy number …

Aim Developmental and epileptic encephalopathies (DEEs) are a group of devastating
disorders caused by epileptic activity, resulting in deterioration in developmental, cognitive …

Epilepsy is a neurological disorder characterised by recurrent seizures, which can
significantly impact patient's quality of life. While current management strategies for epilepsy …

Introduction: Mutations of the KCNQ2 gene, which encodes the Kv7. 2 subunit of voltage-
gated potassium channels, are associated with neonatal onset epilepsy. The main …

Intestinal microbiota are the millions of living microbial communities that inhabit the
gastrointestinal tract. It is essential for multiple functions of the human organism, such as …

El desarrollo de los estudios moleculares ha permitido identificar la etiología genética de
diversas enfermedades como las encefalopatías epilépticas infantiles, las cuales se han …