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Article

A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient.

Sleep - 1 Aug 2013

Pedroso José Luiz, Povoas Barsottini Orlando Graziani, Lin Ling, Melberg Atle, Oliveira Acary S B, Mignot Emmanuel

Abstract excerpt

STUDY OBJECTIVES: Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is caused by DNMT1 mutations. Diagnosing the syndrome can be difficult, as all clinical features may not be present at onset, HLA-DQB1*06:02 is often negative, and sporadic cases occur. We report on clinical...

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Source

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Identifiers

PMID: 23904686
DOI: 10.5665/sleep.2898
PMCID: PMC3700723

Genes

DNMT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23904686-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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