A patient with Muenke syndrome manifesting migrating neonatal seizures

2017
Abstract We report a patient with Muenke syndromewho had repetitive apneic spell followed by focal status epilepticusin the early infancy. IctalEEG 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.
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