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Article

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.

Neurology - 28 Jul 2015

Canafoglia Laura, Gilioli Isabella, Invernizzi Federica, Sofia Vito, Fugnanesi Valeria, Morbin Michela, Chiapparini Luisa, Granata Tiziana, Binelli Simona, Scaioli Vidmer, Garavaglia Barbara, Nardocci Nardo, Berkovic Samuel F, Franceschetti Silvana

Abstract excerpt

OBJECTIVES: To describe the clinical and neurophysiologic patterns of patients with neuronal ceroid lipofuscinoses associated with CLN6 mutations. METHODS: We reviewed the features of 11 patients with different ages at onset. RESULTS: Clinical disease onset occurred within the first decade of life in 8 patients and in the second and third decades in 3. All children presented with progressive cognitive regression...

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Identifiers

PMID: 26115733
DOI: 10.1212/WNL.0000000000001784
PMCID: PMC4520821

Genes

CLN6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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