PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy
| Title: | PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy |
|---|---|
| Authors: | Hildebrand M. S.; Tankard R.; Gazina E. V.; Damiano J. A.; Lawrence K. M.; Dahl H. H. M.; Regan B. M.; Shearer A. E.; Smith R. J. H.; Marini C.; Guerrini R.; Labate A.; Gambardella A.; TINUPER, PAOLO; LICCHETTA, LAURA; Baldassari S.; BISULLI, FRANCESCA; Pippucci T.; Scheffer I. E.; Reid C. A.; Petrou S.; Bahlo M.; Berkovic S. F. |
| Contributors: | Hildebrand, M. S.; Tankard, R.; Gazina, E. V.; Damiano, J. A.; Lawrence, K. M.; Dahl, H. H. M.; Regan, B. M.; Shearer, A. E.; Smith, R. J. H.; Marini, C.; Guerrini, R.; Labate, A.; Gambardella, A.; Tinuper, Paolo; Licchetta, Laura; Baldassari, S.; Bisulli, Francesca; Pippucci, T.; Scheffer, I. E.; Reid, C. A.; Petrou, S.; Bahlo, M.; Berkovic, S. F. |
| Publication Year: | 2015 |
| Collection: | IRIS Università degli Studi di Bologna (CRIS - Current Research Information System) |
| Subject Terms: | Nocturnal frontal lobe epilepsy; NFLE; Autosomal Dominant |
| Description: | Nocturnal frontal lobe epilepsy (NFLE) can be sporadic or autosomal dominant; some families have nicotinic acetylcholine receptor subunit mutations. We report a novel autosomal recessive phenotype in a single family and identify the causative gene. |
| Document Type: | article in journal/newspaper |
| File Description: | ELETTRONICO |
| Language: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/26339676; info:eu-repo/semantics/altIdentifier/wos/WOS:000367237500004; volume:2; issue:8; firstpage:821; lastpage:830; numberofpages:10; journal:ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY; http://hdl.handle.net/11585/511767 |
| DOI: | 10.1002/acn3.224 |
| Availability: | http://hdl.handle.net/11585/511767; https://doi.org/10.1002/acn3.224; https://onlinelibrary.wiley.com/doi/full/10.1002/acn3.224 |
| Rights: | info:eu-repo/semantics/openAccess |
| Accession Number: | edsbas.A567576A |
| Database: | BASE |