Journal article
PRIMA1 mutation: A new cause of nocturnal frontal lobe epilepsy
MS Hildebrand, R Tankard, EV Gazina, JA Damiano, KM Lawrence, HHM Dahl, BM Regan, AE Shearer, RJH Smith, C Marini, R Guerrini, A Labate, A Gambardella, P Tinuper, L Lichetta, S Baldassari, F Bisulli, T Pippucci, IE Scheffer, CA Reid Show all
Annals of Clinical and Translational Neurology | Published : 2015
DOI: 10.1002/acn3.224
Abstract
Objective: 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. Methods: Whole exome sequencing data was used to map the family, thereby narrowing exome search space, and then to identify the mutation. Results: Linkage analysis using exome sequence data from two affected and two unaffected subjects showed homozygous linkage peaks on chromosomes 7, 8, 13, and 14 with maximum LOD scores between 1.5 and 1.93. Exome variant filtering under these peaks revealed that the affected siblings were homozygous ..
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Grants
Awarded by National Health and Medical Research Council