Excitatory and inhibitory neuron defects in a mouse model of Scn1b-linked EIEE52.

Jacob M HullHeather A O'MalleyChunling ChenYukun YuanNicholas DenommeAlexandra A BouzaCharles AnumonwoLuis F Lopez-SantiagoLori L Isom

Published in: Annals of clinical and translational neurology (2020)

This work suggests that SCN1B-linked DEE variants impact both excitatory and inhibitory neurons, leading to the increased severity of EIEE52 relative to other DEEs.

Keyphrases

mouse model
spinal cord
copy number
dna methylation