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Article

Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation.

Epilepsia - 1 Jun 2014

Canafoglia Laura, Morbin Michela, Scaioli Vidmer, Pareyson Davide, D'Incerti Ludovico, Fugnanesi Valeria, Tagliavini Fabrizio, Berkovic Samuel F, Franceschetti Silvana

Abstract excerpt

We detail the phenotype of a novel form of neuronal ceroid lipofuscinosis due to a homozygous progranulin gene mutation (c.813_816del; CLN11 MIM #614706). The symptoms appeared in two young adult siblings, and included progressive retinopathy, recurrent generalized seizures, moderate ataxia, and subtle cognitive dysfunction. Long-lasting episodes of palinopsia were a recurring symptom and associated with...

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PMID: 24779634
DOI: 10.1111/epi.12632

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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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