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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Early-onset Epileptic EncephalopathyGenetic DisorderGeneticsBeta 2NeurologyNeuroscienceOptic AtrophyDisease Gene IdentificationNeuropathologyMedicineSynaptic SignalingNeurogenetics