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Article

Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome.

Disease models & mechanisms - 30 Mar 2020

Siehr Meagan S, Massey Cory A, Noebels Jeffrey L

Abstract excerpt

X-linked infantile spasms syndrome (ISSX) is a clinically devastating developmental epileptic encephalopathy with life-long impact. Arx(GCG)10+7 , a mouse model of the most common triplet-repeat expansion mutation of ARX, exhibits neonatal spasms, electrographic phenotypes and abnormal migration of GABAergic interneuron subtypes. Neonatal presymptomatic treatment with 17β-estradiol (E2) in Arx(GCG)10+7 reduces...

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PMID: 32033960
DOI: 10.1242/dmm.042515
PMCID: PMC7132796

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