Clinical Analysis of PAFAH1B1 Gene Variants in Pediatric Patients with Epilepsy

Early brain development is characterized by both symmetric and asymmetric division of progenitor cells, along with the outward migration of neurons along radial glial cell fibers to form the cortex. Disruption of this complex process can lead to neuronal heterotopia [1]. The hemizygous deletions of 17p13.3 can result in isolated lissencephaly sequence (ILS) or Miller-Dieker syndrome (MDS). The 17p13.3 region encompasses several genes, including Platelet-Activating Factor Acetyl Hydrolase 1B1 (PAFAH1B1), YWHAE, CRK, and others.

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