Early infantile developmental and epileptic encephalopathy: clinical spectrum, diagnosis, outcomes, and evolving treatment strategies.
Mortality reaches 25% in infants with genetically confirmed early infantile epileptic encephalopathy.
Early infantile developmental and epileptic encephalopathy: clinical spectrum, diagnosis, outcomes, and evolving treatment strategies.
Early infantile developmental and epileptic encephalopathy (early infantile developmental and epileptic encephalopathy) is among the most severe epilepsy syndromes, with onset before three months of age and an estimated incidence of approximately 10 per 100,000 live births.
Critical unmet needs include earlier molecular diagnosis, precision therapies targeting developmental outcomes beyond seizure control, and prospective international registries to characterize the long-term natural history of early infantile developmental and epileptic encephalopathy.
This narrative review synthesizes the clinical, electrophysiological, neuroimaging, genetic, and therapeutic literature within the early infantile developmental and epileptic encephalopathy framework.
Electroencephalography remains essential for syndromic classification, while systematic metabolic screening and early trio whole-exome or whole-genome sequencing are central to the etiologic workup, achieving diagnostic yields of 60-65%.
The most commonly identified genetic causes include STXBP1, KCNQ2, and SCN2A variants.
Critical unmet needs include earlier molecular diagnosis, precision therapies targeting developmental outcomes beyond seizure control, and prospective international registries to characterize the long-term natural history of early infantile developmental and epileptic encephalopathy.