Publication
Sleep-related hypermotor epilepsy and peri-ictal hypotension in a patient with syntaxin-1B mutation.
| dc.contributor.author | Peres, J | |
| dc.contributor.author | Antunes, F | |
| dc.contributor.author | Zonjyl, B | |
| dc.contributor.author | Mitchel, AL | |
| dc.contributor.author | Lhatoo, SD | |
| dc.date.accessioned | 2019-04-24T14:22:52Z | |
| dc.date.available | 2019-04-24T14:22:52Z | |
| dc.date.issued | 2018 | |
| dc.description.abstract | STX1B is a gene that encodes syntaxin-1B. STX1B mutations have recently been implicated in fever-associated epilepsy syndromes. However, these have not previously been reported in sleep-related hypermotor epilepsy. A 20-year-old man with a strong family history of epilepsy was investigated in our epilepsy monitoring unit due to uncontrolled epilepsy, compatible with sleep-related hypermotor epilepsy. Electroclinical and polygraphic physiological recordings revealed left frontal epileptiform discharges and prominent peri-ictal hypotension. Normal MRI using an epilepsy protocol prompted a search for a genetic epilepsy, which revealed a likely pathogenic mutation in the STX1B gene. The patient remained seizure-free after treatment optimization with carbamazepine. This case suggests that a sleep-related hypermotor epilepsy phenotype can be associated with syntaxin-1B gene mutation, and testing for this gene should be considered in such patients. Furthermore, it may also be concluded that autonomic dysfunction, characterized by peri-ictal hypotension, can also occur in this discorder. [Published with video sequences on www.epilepticdisorders.com]. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Epileptic Disord. 2018 Oct 1;20(5):413-417 | pt_PT |
| dc.identifier.doi | 10.1684/epd.2018.0996. | pt_PT |
| dc.identifier.issn | 1950-6945 | |
| dc.identifier.uri | http://hdl.handle.net/10400.10/2216 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | John Libbey Eurotext | pt_PT |
| dc.subject | Electroencephalography | pt_PT |
| dc.subject | Reflex epilepsy | pt_PT |
| dc.subject | Seizures | pt_PT |
| dc.title | Sleep-related hypermotor epilepsy and peri-ictal hypotension in a patient with syntaxin-1B mutation. | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Montrouge, France | pt_PT |
| oaire.citation.title | Epileptic disorders : international epilepsy journal with videotape. | pt_PT |
| rcaap.rights | closedAccess | pt_PT |
| rcaap.type | article | pt_PT |