PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

open23siFunding Information: This study was supported by the National Health and Medical Research Council (NHMRC) Program Grant (628952) to S. F. B., S. P. and I. E. S., an Australia Fellowship (466671) to S. F. B, a Practitioner Fellowship (1006110) to I. E. S and a Career Development Fellowship (1063799) to M. S. H. M. B. was supported by an Australian Research Council (ARC) Future Fellowship (FT100100764) and NHMRC Program Grant (APP1054618), and R. T. by an NHMRC Australian Postgraduate Award. This work was also supported by the Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS funding to M. B., and a Telethon Foundation Project GGP13200 to P. T. and T. P.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.openHildebrand 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 P.; Licchetta L.; Baldassari S.; Bisulli F.; Pippucci T.; Scheffer I.E.; Reid C.A.; Petrou S.; Bahlo M.; Berkovic S.F.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 P.; Licchetta L.; Baldassari S.; Bisulli F.; Pippucci T.; Scheffer I.E.; Reid C.A.; Petrou S.; Bahlo M.; Berkovic S.F