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Article

Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.

Brain & development - 1 Feb 2011

Aizaki Koichi, Sugai Kenji, Saito Yoshiaki, Nakagawa Eiji, Sasaki Masayuki, Aoki Yoko, Matsubara Yoichi

Abstract excerpt

A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. Electroencephalograms revealed hypsarrhythmia, and magnetic resonance imaging identified delayed myelination and a hypoplastic corpus callosum. Various antiepileptic treatments, including adrenocorticotropic hormone therapy, were ineffective,...

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Source

Identifiers

PMID: 20395089
DOI: 10.1016/j.braindev.2010.03.008

Genes

BRAF

Variants

Provenance

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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