Early Infantile Epileptic Encephalopathy

EIEE is a severe, early-onset epilepsy syndrome characterized by frequent, refractory seizures and profound developmental impairment. Etiologies are predominantly genetic, including mutations in STXBP1, KCNQ2, and SCN2A. Pathophysiology involves widespread cortical hyperexcitability and impaired neuronal network development. Diagnosis relies on seizure history, EEG showing characteristic burst-suppression patterns, and genetic testing. Management is largely supportive with antiepileptic medications, though prognosis is poor, with significant cognitive and motor deficits.