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Article

Dentate gyrus granule cells are a locus of pathology in Scn8a developmental encephalopathy.

Neurobiology of disease - 1 Sept 2024

Yu Wenxi, Hill Sophie F, Zhu Limei, Demetriou Yiannos, Reger Faith, Mattis Joanna, Meisler Miriam H

Abstract excerpt

Gain-of-function mutations in SCN8A cause developmental and epileptic encephalopathy (DEE), a disorder characterized by early-onset refractory seizures, deficits in motor and intellectual functions, and increased risk of sudden unexpected death in epilepsy. Altered activity of neurons in the corticohippocampal circuit has been reported in mouse models of DEE. We examined the effect of chronic seizures on gene...

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Identifiers

PMID: 38969233
DOI: 10.1016/j.nbd.2024.106591
PMCID: PMC12919710

Genes

SCN8A
CA1
CA3

Variants

Provenance

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