Treatable metabolic and other epileptic encephalopathies of the neonate

Abstract

Epileptic encephalopathies refer to a group of uncommon disorders usually presenting in the first days of life secondary to a congenital inborn error of the metabolism. This group of disorders may involve a dysfunctional protein, an enzymatic deficiency or an excess of a byproduct; usually due to a faulty metabolic pathway. Several classifications have been coined in the past. In this article, we have reviewed the most common epileptic encephalopathies. Additionally, we are discussing a number of recently described channelopathies presenting with seizures early in life.

Keywords

Epilepsy - metabolic encephalopathies