SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations

Seizure - Tập 39 - Trang 34-43 - 2016
Sunay Usluer1, Seda Salar1, Mutluay Arslan2, Uluç Yiş3, Bülent Kara4, Pınar Tektürk5, Betül Baykan5,6, Cihan Meral7, Dilşad Türkdoğan8, Nerses Bebek5, Özlem Yalçın Çapan1, Aslı Gündoğdu Eken1, S. Hande Çağlayan1
1Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey
2Department of Child Neurology, Gülhane Military Medical School, Ankara, Turkey
3Department of Pediatrics, Division of Child Neurology, Dokuz Eylül University School of Medicine, İzmir, Turkey
4Department of Pediatrics, Kocaeli University Medical Faculty, Kocaeli, Turkey
5Department of Neurology, Clinical Neurophysiology and Child Neurology Units, Istanbul University, Istanbul Faculty of Medicine, Istanbul Turkey
6Department of Neurology, Istanbul University Epilepsy Center, Istanbul Turkey
7Department of Child Neurology, Gülhane Military Medical School, İstanbul, Turkey
8Department of Child Neurology, Marmara University, Medical Faculty, Istanbul

Tài liệu tham khảo

Escayg, 2010, Sodium channel SCN1A and epilepsy: mutations and mechanisms, Epilepsia, 51, 1650, 10.1111/j.1528-1167.2010.02640.x Claes, 2001, De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy, Am J Hum Genet, 68, 1327, 10.1086/320609 Escayg, 2001, A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy, Am J Hum Genet, 68, 866, 10.1086/319524 Harkin, 2007, The spectrum of SCN1A-related infantile epileptic encephalopathies, Brain, 130, 843, 10.1093/brain/awm002 Møller, 2008, Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A, Epilepsia, 49, 1091, 10.1111/j.1528-1167.2008.01550.x Suls, 2006, Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients, Hum Mutat, 27, 914, 10.1002/humu.20350 Marini, 2009, SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis, Epilepsia, 50, 1670, 10.1111/j.1528-1167.2009.02013.x Lossin, 2009, A catalog of SCN1A variants, Brain Dev, 31, 114, 10.1016/j.braindev.2008.07.011 Claes, 2009, The SCN1A variant database: a novel research and diagnostic tool, Hum Mutat, 30, 904, 10.1002/humu.21083 Meng, 2015, The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype, Hum Mutat, 36, 573, 10.1002/humu.22782 Mastrangelo, 2012, Genes of early-onset epileptic encephalopathies: from genotype to phenotype, Pediatr Neurol, 46, 24, 10.1016/j.pediatrneurol.2011.11.003 Depienne, 2009, Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients, J Med Genet, 46, 183, 10.1136/jmg.2008.062323 Guerrini, 2010, Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene, Epilepsia, 51, 2474, 10.1111/j.1528-1167.2010.02790.x Singh, 2009, A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome, PLoS Genet, 5, e1000649, 10.1371/journal.pgen.1000649 Zuberi, 2011, Genotype-phenotype associations in SCN1A-related epilepsies, Neurology, 76, 594, 10.1212/WNL.0b013e31820c309b Scheffer, 2011, Does genotype determine phenotype? Sodium channel mutations in Dravet syndrome and GEFS+, Neurology, 76, 588, 10.1212/WNL.0b013e31820d8b51 Scheffer, 2005, Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+), Epilepsia, 46, 41, 10.1111/j.1528-1167.2005.00358.x Wallace, 2001, Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus, Am J Hum Genet, 68, 859, 10.1086/319516 Schwarz, 2014, MutationTaster2: mutation prediction for the deep-sequencing age, Nat Methods, 11, 361, 10.1038/nmeth.2890 Adzhubei, 2010, A method and server for predicting damaging missense mutations, Nat Methods, 7, 248, 10.1038/nmeth0410-248 Choi, 2012, Predicting the functional effect of amino acid substitutions and indels, PLoS One, 7, e46688, 10.1371/journal.pone.0046688 Gambardella, 2009, Clinical spectrum of SCN1A mutations, Epilepsia, 50, 20, 10.1111/j.1528-1167.2009.02115.x Suls, 2013, De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome, Am J Hum Genet, 93, 967, 10.1016/j.ajhg.2013.09.017 Weiss, 2003, Sodium channels SCN1A, SCN2A and SCN3A in familial autism, Mol Psychiatr, 8, 186, 10.1038/sj.mp.4001241 Orrico, 2009, Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies, Clinical, 75, 579 Combi, 2009, Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy, Brain Res Bull, 79, 89, 10.1016/j.brainresbull.2009.01.008 Wang, 2012, Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy, Epilepsy Res, 102, 195, 10.1016/j.eplepsyres.2012.06.006 Nashef, 2012, Unifying the definitions of sudden unexpected death in epilepsy, Epilepsia, 53, 227, 10.1111/j.1528-1167.2011.03358.x Surges, 2012, Sudden unexpected death in epilepsy: mechanisms, prevalence, and prevention, Curr Opin Neurol, 25, 201, 10.1097/WCO.0b013e3283506714 Le Gal, 2010, A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation, Epilepsia, 51, 1915, 10.1111/j.1528-1167.2010.02691.x Auerbach, 2013, Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome, PLoS One, 8, e77843, 10.1371/journal.pone.0077843 Kalume, 2013, Sudden unexpected death in Dravet syndrome: respiratory and other physiological dysfunctions, Respir Physiol Neurobiol, 189, 324, 10.1016/j.resp.2013.06.026 Klassen, 2014, High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile, Epilepsia, 55, e6, 10.1111/epi.12489