| Literature DB >> 28551036 |
Yukimune Okubo1, Taro Kitamura2, Mai Anzai3, Wakaba Endo3, Takehiko Inui3, Yusuke Takezawa4, Sato Suzuki-Muromoto3, Takuya Miyabayashi3, Noriko Togashi3, Hiroshi Oba5, Hirotomo Saitsu6, Naomichi Matsumoto7, Kazuhiro Haginoya3.
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.Entities:
Keywords: FGFR3; MRI; Muenke syndrome; Neuroimaging; Temporal lobe dysgenesis
Mesh:
Year: 2017 PMID: 28551036 DOI: 10.1016/j.braindev.2017.05.007
Source DB: PubMed Journal: Brain Dev ISSN: 0387-7604 Impact factor: 1.961