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Article

GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice.

JCI insight - 8 Oct 2025

Takahashi Keigo, Rensing Nicholas R, Eultgen Elizabeth M, Williams Letitia L, Wang Sophie H, Nelvagal Hemanth R, Le Steven Q, Roberts Marie S, Doray Balraj, Han Edward B, Dickson Patricia I, Wong Michael, Sands Mark S, Cooper Jonathan D

Abstract excerpt

The cellular etiology of seizures in CLN2 disease, a childhood-onset neurodegenerative lysosomal storage disorder caused by a deficiency of tripeptidyl peptidase 1 (TPP1), remains elusive. Given that Cln2R207X/R207X mice display fatal spontaneous seizures and an early loss of several cortical GABAergic interneuron populations, we hypothesized that these 2 events might be causally related. To study the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40839402
DOI: 10.1172/jci.insight.184487
PMCID: PMC12513480

Genes

TPP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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