Developmental and Epileptic Encephalopathies: Need for Bridging the Gaps Between Clinical Syndromes and Underlying Genetic Etiologies.

Abstract excerpt

Advancement in genetic testing has become increasingly important in diagnosing and managing developmental and epileptic encephalopathies (DEEs), a group of rare neurodevelopmental disorders characterized by early-onset seizures, developmental delay, and electroencephalographic (EEG) abnormalities. These early epileptic encephalopathies are often described as various syndromes as per their clearly defined,...

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