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Article

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.

Epilepsy & behavior : E&B - 1 Feb 2007

Striano Pasquale, Specchio Nicola, Biancheri Roberta, Cannelli Natalia, Simonati Alessandro, Cassandrini Denise, Rossi Andrea, Bruno Claudio, Fusco Lucia, Gaggero Roberto, Vigevano Federico, Bertini Enrico, Zara Federico, Santorelli Filippo M, Striano Salvatore

Abstract excerpt

Neuronal ceroid lipofuscinoses (NCLs) are characterized by epilepsy, visual failure, psychomotor deterioration, and accumulation of autofluorescent lipopigment. CLN8 mutations result in Northern epilepsy and Turkish variant late infantile NCL. We describe the clinical and neurophysiological findings of three patients with CLN8 mutations from Italy. In these patients, the onset of epilepsy occurred between 3 and 6...

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Source

Identifiers

PMID: 17129765
DOI: 10.1016/j.yebeh.2006.10.009

Genes

CLN8
NCL

Provenance

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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