AI Article Synopsis
- A case study presented a patient with Muenke syndrome who experienced apneic spells and focal status epilepticus during infancy.
- An EEG revealed abnormal brain activity with focal spikes transitioning from the left to the right hemisphere, accompanying tonic seizures that migrated across the body.
- Brain MRI indicated abnormal hippocampal development, but the long-term outcome for seizures was positive, challenging the belief that FGFR3 mutation leads to severe epilepsy.
Article 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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.braindev.2017.05.007 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!