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Article

Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Sept 2013

Choi Kwang-Dong, Yook Ji-Won, Kim Min-Ji, Kim Hyang-Sook, Park Young-Eun, Kim Ji Soo, Choi Jae-Hwan, Shin Jin-Hong, Kim Dae-Seong

Abstract excerpt

Anticipation is a phenomenon characterized by decreasing age at onset and increasing severity of symptoms of a disease in successive generations within a pedigree. Anticipation mostly occurs in neurodegenerative diseases with expansion of unstable trinucleotide repeats. However, it has not been p...

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Identifiers

PMID: 23344743
DOI: 10.1007/s10072-013-1298-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23344743-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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