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Article

CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report.

Brain & development - 1 Feb 2018

Hayashida Takuya, Saito Yoshiaki, Ishii Atsushi, Yamada Hiroyuki, Itakura Ayako, Minato Toshinori, Fukuyama Tetsuhiro, Maegaki Yoshihiro, Hirose Shinichi

Abstract excerpt

We report a one-year-old boy with early-onset myoclonic epilepsy, developmental arrest, and hyperekplexia during early infancy. He presented with refractory myoclonic/tonic seizures since birth. Electroencephalography revealed multifocal spikes, and rhythmic activities that occurred simultaneous with aggravation of myoclonus accompanied by tonic upper limb elevation. Brain magnetic resonance imaging revealed...

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Identifiers

PMID: 28927557
DOI: 10.1016/j.braindev.2017.08.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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