Genetic and Metabolic Neonatal Epilepsies.

Seizures are a common neonatal neurological disorder with an incidence of 1 to 5 in 1,000 live births. Genetic and metabolic epilepsies account for 10% to 12% of all neonatal seizures. Correct identification and diagnosis are important factors, as they carry treatment and management implications. Clinical history, neurological examination, seizure types, epilepsy syndromes, and electroencephalogram findings can be used to guide the diagnosis of epilepsy. Genetic and metabolic epilepsies in neonates can be categorized practically into two groups: amenably treatable disorders, and the most common genetic epilepsies. The treatable disorders primarily consist of inborn errors of metabolism that have a specific therapy. The most common genetic epilepsies include monogenic disorders, which usually result from channelopathies, synaptic vesicle docking/release defect, or dysfunction of cell signaling. A step-wise diagnostic approach to genetic and metabolic epilepsies is proposed in this article to aid clinicians in providing care for newborns with seizures. .