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Article

Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures.

Journal of inherited metabolic disease - 1 Jul 2021

Abdennadher Myriam, Inati Sara, Soldatos Ariane, Norato Gina, Baker Eva H, Thurm Audrey, Bartolini Luca, Masvekar Ruturaj, Theodore William, Bielekova Bibiana, Porter Forbes D, Dang Do An N

Abstract excerpt

CLN3 disease is a pediatric neurodegenerative condition wherein seizures are common. The most common disease-causing variant is an ~1-kb deletion in CLN3. We investigated seizure phenotype in relation to genotype and to adaptive behavior, MR spectroscopy and CSF biochemical markers in a CLN3 cohort. We performed seizure phenotyping using clinical history, EEG, and the Unified Batten Disease Rating Scale (UBDRS)...

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Identifiers

PMID: 33550636
DOI: 10.1002/jimd.12366
PMCID: PMC9437865

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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