Epilepsy in RAS/MAPK syndrome: Two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review

Masao Adachi, Yu Abe, Yoko Aoki, Yoichi Matsubara

Research output: Contribution to journalArticlepeer-review

27 Citations (Scopus)

Abstract

We report two individual cases of cardio-facio-cutaneous (CFC) syndrome with severe neurological impairment consisting of infantile spasms with hypsarrhythmia and refractory epilepsy with multifocal epileptic paroxysms such as modified hypsarrhythmia. Both cases shared diffuse brain atrophy and severely delayed myelination on neuroimaging. Genetic analysis revealed individual heterozygous mutations in the KRAS (phenotype of CFC/Noonan syndrome) and BRAF genes (phenotype of CFC syndrome). Neurological impairment in cases with mutations in the RAS/MAPK (mitogen activated protein kinase) signal pathway may be more severe, and could be linked to some forms of refractory epilepsy, especially epileptic encephalopathy that includes infantile spasms.

Original languageEnglish
Pages (from-to)55-60
Number of pages6
JournalSeizure
Volume21
Issue number1
DOIs
Publication statusPublished - 2012 Jan

Keywords

  • Cardio-facio-cutaneous syndrome
  • Neurological impairment
  • RAS/MAPK pathway
  • Seizure

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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