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Article

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2015

Blumkin Lubov, Leshinsky-Silver Esther, Michelson Marina, Zerem Ayelet, Kivity Sara, Lev Dorit, Lerman-Sagie Tally

Abstract excerpt

OBJECTIVE: Paroxysmal tonic upward gaze was initially described as a benign phenomenon with negative investigations and eventual complete resolution of symptoms. Later publications demonstrated that a similar clinical picture may arise from structural brain lesions, channelopathies, neurotransmit...

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Source

Identifiers

PMID: 25596066
DOI: 10.1016/j.ejpn.2014.12.018

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25596066-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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