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  2. Infantile or early childhood epileptic encephalopathy

Infantile or early childhood epileptic encephalopathy

Definition:

Infantile or early childhood epileptic encephalopathy (IECEE) is severe disorder characterized by early-onset epilepsy, severe developmental delay, refractory seizures, and dysmorphic features, and a de novo mutation in PPP3CA. PPP3CA encodes a subunit of calcineurin, a key regulator of synaptic vesicle recycling at nerve terminals. Recently, IECEE caused by mutations in the GABRB2 gene and ATP6V1A gene has also been reported.

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