Many patients with epilepsy undergo exome or genome sequencing as part of a diagnostic
workup; however, many remain genetically unsolved. There are various factors that account …

The human body is commonly exposed to bisphenol A (BPA), which is widely used in
consumer and industrial products. BPA is an endocrine-disrupting chemical that has …

Focal malformations of cortical development (MCD) are linked to somatic brain mutations
occurring during neurodevelopment. Mild malformation of cortical development with …

Lesional focal epilepsy (LFE) is a common and severe seizure disorder caused by
epileptogenic lesions, including malformations of cortical development (MCD) and low …

Cortical neurogenesis follows a simple lineage: apical radial glia cells (RGCs) generate
basal progenitors, and these produce neurons. How this occurs in species with expanded …

Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct
isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial …

Focal malformations of cortical development including focal cortical dysplasia,
hemimegalencephaly and megalencephaly, are a spectrum of neurodevelopmental …

Malformations of the brain are common and vary in severity, from negligible to potentially
fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the …

Congenital brain malformations are abnormalities present at birth that can result from
developmental disruptions at various embryonic or fetal stages. The clinical presentation is …

Malformations of cortical development (MCD) comprise a broad spectrum of structural brain
lesions frequently associated with epilepsy. Disease definition and diagnosis remain …