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Article

Leukoencephalopathy, cerebral calcifications and cysts: a family study.

Journal of neurology - 1 Oct 2014

Karlinger Kinga, Tárnoki Ádám Domonkos, Tárnoki Dávid László, Polvi Anne, Lehesjoki Anna-Elina, Kelemen Andrea, Szegedi László, Turányi Eszter, Kamondi Anita, Szűcs Anna

Abstract excerpt

We present a clinical, neuro-radiological and genetic study on a family with members suffering from an autosomal dominantly inherited syndrome characterised by epilepsy, cerebral calcifications and cysts, bone abnormalities; progressive neuro-cognitive deterioration and paranasal sinusitis. This syndrome shares several features with leukoencephalopathy with calcifications and cysts also called Labrune syndrome...

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Identifiers

PMID: 25034270
DOI: 10.1007/s00415-014-7393-9

Genes

CTC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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