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.
Hildebrand, M.S., Tankard, R., Gazina, E.V., Damiano, J.A., Lawrence, K.M., Dahl, H.H.M., et al. (2015). PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2(8), 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 in questo prodotto:
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