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Article

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

Brain : a journal of neurology - 1 Jun 2014

Moghadam Keivan Kaveh, Pizza Fabio, La Morgia Chiara, Franceschini Christian, Tonon Caterina, Lodi Raffaele, Barboni Piero, Seri Marco, Ferrari Simona, Liguori Rocco, Donadio Vincenzo, Parchi Piero, Cornelio Ferdinando, Inzitari Domenico, Mignarri Andrea, Capocchi Giuseppe, Dotti Maria Teresa, Winkelmann Juliane, Lin Ling, Mignot Emmanuel, Carelli Valerio, Plazzi Giuseppe

Abstract excerpt

We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN). Patients underwent genetic analysis of...

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Identifiers

PMID: 24727570
DOI: 10.1093/brain/awu069

Genes

DNMT1

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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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