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.
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy / 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.. - In: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. - ISSN 2328-9503. - ELETTRONICO. - 2:8(2015), pp. 821-830. [10.1002/acn3.224]
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy
TINUPER, PAOLO;LICCHETTA, LAURA;BISULLI, FRANCESCA;Pippucci T.;
2015
Abstract
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.| File | Dimensione | Formato | |
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