A patient with Muenke syndrome manifesting migrating neonatal seizures

Yukimune Okubo, Taro Kitamura, Mai Anzai, Wakaba Endo, Takehiko Inui, Yusuke Takezawa, Sato Suzuki-Muromoto, Takuya Miyabayashi, Noriko Togashi, Hiroshi Oba, Hirotomo Saitsu, Naomichi Matsumoto, Kazuhiro Haginoya

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

We report a patient with Muenke syndrome who had repetitive apneic spell followed by focal status epilepticus in the early infancy. Ictal EEG showed focal spikes bursts originated from the left hemisphere and sifted to the right hemisphere, during which he had migrating tonic seizures from right side of the body to the left side of the body. Brain MRI showed abnormal development of bilateral hippocampus, which was characterized as abnormal folding of hippocampal gyri. However, the long-term seizure prognosis was favorable. Results from this and previous studies failed to support the notion that FGFR3 (P250) mutation results in epileptic encephalopathy.

Original languageEnglish
Pages (from-to)873-876
Number of pages4
JournalBrain and Development
Volume39
Issue number10
DOIs
Publication statusPublished - 2017 Nov
Externally publishedYes

Keywords

  • FGFR3
  • MRI
  • Muenke syndrome
  • Neuroimaging
  • Temporal lobe dysgenesis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

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