Background Neuroplasticity refers to the inherently dynamic biological capacity of the central
nervous system (CNS) to undergo maturation, change structurally and functionally in …

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 …

Purpose Genetic diagnosis for children suffering from epilepsy has important implications for
treatment, prognosis, and development of precision medicine strategies. Methods We …

Dravet syndrome is the most studied form of genetic epilepsy. It has now been clarified that
the clinical spectrum of the syndrome does not have firmly established boundaries. The core …

Background Epileptic encephalopathies are a devastating group of neurological conditions
in which etiological diagnosis can alter management and clinical outcome. Exome …

CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a
developmental and epileptic encephalopathy (DEE). The incidence is between~ 1: 40,000 …

Early infantile epileptic encephalopathy (EIEE) is a devastating epilepsy syndrome with
onset in the first months of life. Although mutations in more than 50 different genes are …

The convergent endeavors of the neuroscientist to establish a link between clinical
neurology, genetics, loss of function of an important protein, and channelopathies behind …

Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are
associated with great genetic heterogeneity, thus making sequential single-gene testing an …

KCNQ2-related disorders represent a continuum of overlapping neonatal epileptic
phenotypes ranging from self-limited familial neonatal epilepsy (SLFNE) at the mild end to …