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Article

Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.

Clinical neurology and neurosurgery - 1 Dec 2022

Dilber Cengiz, Yücel Gül, Şahin Yavuz

Abstract excerpt

OBJECTIVES: Developmental and epileptic encephalopathies (DEEs) are heterogeneous severe neurodevelopmental disorders characterized by recurrent clinical seizures that begin in the neonatal period and early childhood and regression or delay in cognitive, sensory and motor skills in the context of accompanying epileptiform abnormalities. Adaptor-related protein complex 3 beta-2 subunit (AP3B2) gene variants are...

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PMID: 36356440
DOI: 10.1016/j.clineuro.2022.107509

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