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Volumn 49, Issue , 2015, Pages 104-110

Genetic mutations associated with status epilepticus

Author keywords

Cerebral dysplasia; Epileptic encephalopathy; Genetics; Inborn errors of metabolism; Mitochondrial disease; Status epilepticus

Indexed keywords

ARTICLE; BENIGN CHILDHOOD EPILEPSY; CAUSAL ATTRIBUTION; CORTICAL DYSPLASIA; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EPILEPTIC STATE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; HUMAN; INBORN ERROR OF METABOLISM; LENNOX GASTAUT SYNDROME; PATHOGENESIS; SYSTEMATIC REVIEW; ADULT; CHILD; EPILEPSY; GENETICS; INFANT; MUTATION; PRESCHOOL CHILD; SEIZURES; STATUS EPILEPTICUS;

EID: 84938949340     PISSN: 15255050     EISSN: 15255069     Source Type: Journal    
DOI: 10.1016/j.yebeh.2015.04.013     Document Type: Article
Times cited : (25)

References (51)
  • 2
    • 84872271096 scopus 로고    scopus 로고
    • National Centre for Biotechnology Information - Online Mendelian Inheritance in Man (OMIM) database
    • National Centre for Biotechnology Information - Online Mendelian Inheritance in Man (OMIM) database http://www.ncbi.nlm.nih.gov/omim.
  • 4
    • 85017788081 scopus 로고    scopus 로고
    • DisGeNET http://www.disgenet.org/web/DisGeNET/v2.1;jsessionid=zp7sk63z1ct88lqbcbotfi7z.
    • DisGeNET
  • 5
    • 84859511813 scopus 로고    scopus 로고
    • Mitochondrial disease and epilepsy
    • Rahman S. Mitochondrial disease and epilepsy. Dev Med Child Neurol 2012, 54(5):397-406.
    • (2012) Dev Med Child Neurol , vol.54 , Issue.5 , pp. 397-406
    • Rahman, S.1
  • 6
    • 84898007982 scopus 로고    scopus 로고
    • Genes in infantile epileptic encephalopathies
    • National Center for Biotechnology Information (US), Bethesda (MD), J.L. Noebels, M. Avoli, M.A. Rogawski, R.W. Olsen, A.V. Delgado-Escueta (Eds.)
    • Depienne C., Gourfinkel-An I., Baulac S., LeGuern E. Genes in infantile epileptic encephalopathies. Jasper's basic mechanisms of the epilepsies [Internet] 2012, National Center for Biotechnology Information (US), Bethesda (MD). 4th ed. J.L. Noebels, M. Avoli, M.A. Rogawski, R.W. Olsen, A.V. Delgado-Escueta (Eds.).
    • (2012) Jasper's basic mechanisms of the epilepsies [Internet]
    • Depienne, C.1    Gourfinkel-An, I.2    Baulac, S.3    LeGuern, E.4
  • 7
    • 84910613253 scopus 로고    scopus 로고
    • Syndromes at risk of status epilepticus in children: genetic and pathophysiological issues
    • Neubauer B.A., Hahn A. Syndromes at risk of status epilepticus in children: genetic and pathophysiological issues. Epileptic Disord 2014, 16(Suppl. 1):89-95.
    • (2014) Epileptic Disord , vol.16 , pp. 89-95
    • Neubauer, B.A.1    Hahn, A.2
  • 8
    • 84921803785 scopus 로고    scopus 로고
    • De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
    • EuroEPINOMICS-RES Consortium, Epilepsy Phenome/Genome Project, Epi4K Consortium De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet 2014, 95(4):360-370.
    • (2014) Am J Hum Genet , vol.95 , Issue.4 , pp. 360-370
  • 9
    • 79955006386 scopus 로고    scopus 로고
    • Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants
    • Guerrini R., Falchi M. Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants. Dev Med Child Neurol 2011, 53(Suppl. 2):11-15.
    • (2011) Dev Med Child Neurol , vol.53 , pp. 11-15
    • Guerrini, R.1    Falchi, M.2
  • 11
    • 84902544328 scopus 로고    scopus 로고
    • Genetics, molecular biology, and phenotypes of X-linked epilepsy
    • Deng H., Zheng W., Song Z. Genetics, molecular biology, and phenotypes of X-linked epilepsy. Mol Neurobiol 2014, 49(3):1166-1180.
    • (2014) Mol Neurobiol , vol.49 , Issue.3 , pp. 1166-1180
    • Deng, H.1    Zheng, W.2    Song, Z.3
  • 12
    • 84893440324 scopus 로고    scopus 로고
    • Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability
    • O'Brien J.E., Meisler M.H. Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability. Front Genet 2013, 4:213.
    • (2013) Front Genet , vol.4 , pp. 213
    • O'Brien, J.E.1    Meisler, M.H.2
  • 13
    • 84898048423 scopus 로고    scopus 로고
    • 14q12 duplication including FOXG1: is there a common age-dependent epileptic phenotype?
    • Bertossi C., Cassina M., De Palma L., Vecchi M., Rossato S., Toldo I., et al. 14q12 duplication including FOXG1: is there a common age-dependent epileptic phenotype?. Brain Dev 2014, 36(5):402-407.
    • (2014) Brain Dev , vol.36 , Issue.5 , pp. 402-407
    • Bertossi, C.1    Cassina, M.2    De Palma, L.3    Vecchi, M.4    Rossato, S.5    Toldo, I.6
  • 14
    • 84881378173 scopus 로고    scopus 로고
    • Mitochondrial disease and epilepsy
    • Kang H.C., Lee Y.M., Kim H.D. Mitochondrial disease and epilepsy. Brain Dev 2013, 35(8):757-761.
    • (2013) Brain Dev , vol.35 , Issue.8 , pp. 757-761
    • Kang, H.C.1    Lee, Y.M.2    Kim, H.D.3
  • 15
    • 84881370025 scopus 로고    scopus 로고
    • Basic mechanisms of catastrophic epilepsy - overview from animal models
    • Galanopoulou A.S. Basic mechanisms of catastrophic epilepsy - overview from animal models. Brain Dev 2013, 35(8):748-756.
    • (2013) Brain Dev , vol.35 , Issue.8 , pp. 748-756
    • Galanopoulou, A.S.1
  • 17
    • 84866973925 scopus 로고    scopus 로고
    • Epileptic encephalopathies in infants and children
    • Nordli D.R. Epileptic encephalopathies in infants and children. J Clin Neurophysiol 2012, 29(5):420-424.
    • (2012) J Clin Neurophysiol , vol.29 , Issue.5 , pp. 420-424
    • Nordli, D.R.1
  • 18
    • 84862209600 scopus 로고    scopus 로고
    • A genetic diagnostic approach to infantile epileptic encephalopathies
    • Kamien B.A., Cardamone M., Lawson J.A., Sachdev R. A genetic diagnostic approach to infantile epileptic encephalopathies. J Clin Neurosci 2012, 19(7):934-941.
    • (2012) J Clin Neurosci , vol.19 , Issue.7 , pp. 934-941
    • Kamien, B.A.1    Cardamone, M.2    Lawson, J.A.3    Sachdev, R.4
  • 19
    • 84862211234 scopus 로고    scopus 로고
    • Molecular bases and clinical spectrum of early infantile epileptic encephalopathies
    • Tavyev Asher Y.J., Scaglia F. Molecular bases and clinical spectrum of early infantile epileptic encephalopathies. Eur J Med Genet 2012, 55(5):299-306.
    • (2012) Eur J Med Genet , vol.55 , Issue.5 , pp. 299-306
    • Tavyev Asher, Y.J.1    Scaglia, F.2
  • 20
    • 84858297870 scopus 로고    scopus 로고
    • PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder
    • Depienne C., LeGuern E. PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. Hum Mutat 2012, 33(4):627-634.
    • (2012) Hum Mutat , vol.33 , Issue.4 , pp. 627-634
    • Depienne, C.1    LeGuern, E.2
  • 21
    • 84555202524 scopus 로고    scopus 로고
    • Genes of early-onset epileptic encephalopathies: from genotype to phenotype
    • Mastrangelo M., Leuzzi V. Genes of early-onset epileptic encephalopathies: from genotype to phenotype. Pediatr Neurol 2012, 46(1):24-31.
    • (2012) Pediatr Neurol , vol.46 , Issue.1 , pp. 24-31
    • Mastrangelo, M.1    Leuzzi, V.2
  • 22
    • 84861191703 scopus 로고    scopus 로고
    • Ohtahara syndrome with emphasis on recent genetic discovery
    • Pavone P., Spalice A., Polizzi A., Parisi P., Ruggieri M. Ohtahara syndrome with emphasis on recent genetic discovery. Brain Dev 2012, 34(6):459-468.
    • (2012) Brain Dev , vol.34 , Issue.6 , pp. 459-468
    • Pavone, P.1    Spalice, A.2    Polizzi, A.3    Parisi, P.4    Ruggieri, M.5
  • 23
    • 84904285647 scopus 로고    scopus 로고
    • Pathogenetic mechanisms of focal cortical dysplasia
    • Marin-Valencia I., Guerrini R., Gleeson J.G. Pathogenetic mechanisms of focal cortical dysplasia. Epilepsia 2014, 55(7):970-978.
    • (2014) Epilepsia , vol.55 , Issue.7 , pp. 970-978
    • Marin-Valencia, I.1    Guerrini, R.2    Gleeson, J.G.3
  • 24
    • 67651092097 scopus 로고    scopus 로고
    • Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain
    • Andrade D.M. Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain. Hum Genet 2009, 126(1):173-193.
    • (2009) Hum Genet , vol.126 , Issue.1 , pp. 173-193
    • Andrade, D.M.1
  • 25
    • 77951207235 scopus 로고    scopus 로고
    • Neuronal migration disorders
    • Guerrini R., Parrini E. Neuronal migration disorders. Neurobiol Dis 2010, 38(2):154-166.
    • (2010) Neurobiol Dis , vol.38 , Issue.2 , pp. 154-166
    • Guerrini, R.1    Parrini, E.2
  • 28
    • 77955883759 scopus 로고    scopus 로고
    • Recent advances in the genetics of mitochondrial encephalopathies
    • Tucker E.J., Compton A.G., Thorburn D.R. Recent advances in the genetics of mitochondrial encephalopathies. Curr Neurol Neurosci Rep 2010, 10(4):277-285.
    • (2010) Curr Neurol Neurosci Rep , vol.10 , Issue.4 , pp. 277-285
    • Tucker, E.J.1    Compton, A.G.2    Thorburn, D.R.3
  • 29
    • 77949464837 scopus 로고    scopus 로고
    • Polymerase gamma 1 mutations: clinical correlations
    • Milone M., Massie R. Polymerase gamma 1 mutations: clinical correlations. Neurologist 2010, 16(2):84-91.
    • (2010) Neurologist , vol.16 , Issue.2 , pp. 84-91
    • Milone, M.1    Massie, R.2
  • 30
    • 77950400643 scopus 로고    scopus 로고
    • Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity
    • Crow Y.J., Rehwinkel J. Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum Mol Genet 2009, 18(R2):R130-R136.
    • (2009) Hum Mol Genet , vol.18 , Issue.R2 , pp. R130-R136
    • Crow, Y.J.1    Rehwinkel, J.2
  • 33
    • 84894314664 scopus 로고    scopus 로고
    • The molecular biology of genetic-based epilepsies
    • Deng H., Xiu X., Song Z. The molecular biology of genetic-based epilepsies. Mol Neurobiol 2014, 49(1):352-367.
    • (2014) Mol Neurobiol , vol.49 , Issue.1 , pp. 352-367
    • Deng, H.1    Xiu, X.2    Song, Z.3
  • 34
    • 84881248686 scopus 로고    scopus 로고
    • Neurodegenerative disorders and metabolic disease
    • Pierre G. Neurodegenerative disorders and metabolic disease. Arch Dis Child 2013, 98(8):618-624.
    • (2013) Arch Dis Child , vol.98 , Issue.8 , pp. 618-624
    • Pierre, G.1
  • 36
    • 84876800819 scopus 로고    scopus 로고
    • Epilepsy in inborn errors of metabolism
    • Bahi-Buisson N., Dulac O. Epilepsy in inborn errors of metabolism. Handb Clin Neurol 2013, 111:533-541.
    • (2013) Handb Clin Neurol , vol.111 , pp. 533-541
    • Bahi-Buisson, N.1    Dulac, O.2
  • 38
    • 84871845543 scopus 로고    scopus 로고
    • 22q11.2 microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature
    • Valvo G., Novara F., Brovedani P., Ferrari A.R., Guerrini R., Zuffardi O., et al. 22q11.2 microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. Epilepsy Behav 2012, 25(4):567-572.
    • (2012) Epilepsy Behav , vol.25 , Issue.4 , pp. 567-572
    • Valvo, G.1    Novara, F.2    Brovedani, P.3    Ferrari, A.R.4    Guerrini, R.5    Zuffardi, O.6
  • 39
    • 77957018697 scopus 로고    scopus 로고
    • The uncommon causes of status epilepticus: a systematic review
    • Tan R.Y., Neligan A., Shorvon S.D. The uncommon causes of status epilepticus: a systematic review. Epilepsy Res 2010, 91(2-3):111-122.
    • (2010) Epilepsy Res , vol.91 , Issue.2-3 , pp. 111-122
    • Tan, R.Y.1    Neligan, A.2    Shorvon, S.D.3
  • 41
    • 84880759439 scopus 로고    scopus 로고
    • Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44
    • Wang D., Zeesman S., Tarnopolsky M.A., Nowaczyk M.J. Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44. Am J Med Genet A 2013, 161A(8):2016-2019.
    • (2013) Am J Med Genet A , vol.161A , Issue.8 , pp. 2016-2019
    • Wang, D.1    Zeesman, S.2    Tarnopolsky, M.A.3    Nowaczyk, M.J.4
  • 42
    • 84898012564 scopus 로고    scopus 로고
    • Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures
    • Zhang X., Ling J., Barcia G., Jing L., Wu J., Barry B.J., et al. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet 2014, 94(4):547-558.
    • (2014) Am J Hum Genet , vol.94 , Issue.4 , pp. 547-558
    • Zhang, X.1    Ling, J.2    Barcia, G.3    Jing, L.4    Wu, J.5    Barry, B.J.6
  • 43
    • 49649103178 scopus 로고    scopus 로고
    • Genetic disorders associated with macrocephaly
    • Williams C.A., Dagli A., Battaglia A. Genetic disorders associated with macrocephaly. Am J Med Genet A 2008, 146A(15):2023-2037.
    • (2008) Am J Med Genet A , vol.146A , Issue.15 , pp. 2023-2037
    • Williams, C.A.1    Dagli, A.2    Battaglia, A.3
  • 44
    • 77954356949 scopus 로고    scopus 로고
    • Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study
    • Kasperaviciute D., Catarino C.B., Heinzen E.L., Depondt C., Cavalleri G.L., Caboclo L.O., et al. Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. Brain 2010, 133:2136-2147.
    • (2010) Brain , vol.133 , pp. 2136-2147
    • Kasperaviciute, D.1    Catarino, C.B.2    Heinzen, E.L.3    Depondt, C.4    Cavalleri, G.L.5    Caboclo, L.O.6
  • 45
    • 74249088463 scopus 로고    scopus 로고
    • Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
    • de Kovel C.G., Trucks H., Helbig I., Mefford H.C., Baker C., Leu C., et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2010, 133:23-32.
    • (2010) Brain , vol.133 , pp. 23-32
    • de Kovel, C.G.1    Trucks, H.2    Helbig, I.3    Mefford, H.C.4    Baker, C.5    Leu, C.6
  • 46
    • 77956628767 scopus 로고    scopus 로고
    • Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
    • Mefford H.C., Muhle H., Ostertag P., von Spiczak S., Buysse K., Baker C., et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 2010, 6:e1000962.
    • (2010) PLoS Genet , vol.6 , pp. e1000962
    • Mefford, H.C.1    Muhle, H.2    Ostertag, P.3    von Spiczak, S.4    Buysse, K.5    Baker, C.6
  • 48
    • 84899107506 scopus 로고    scopus 로고
    • Metabolic causes of epileptic encephalopathy
    • Yu J.Y., Pearl P.L. Metabolic causes of epileptic encephalopathy. Epilepsy Res Treat 2013, 2013:124934.
    • (2013) Epilepsy Res Treat , vol.2013 , pp. 124934
    • Yu, J.Y.1    Pearl, P.L.2
  • 49
    • 84938990644 scopus 로고    scopus 로고
    • Genetic counselling. Chapter 27
    • Wiley, Oxford, [in press], S. Shorvon, E. Perucca, J. Engel (Eds.)
    • Zara F. Genetic counselling. Chapter 27. Treatment of epilepsy 2015, Wiley, Oxford, [in press]. S. Shorvon, E. Perucca, J. Engel (Eds.).
    • (2015) Treatment of epilepsy
    • Zara, F.1
  • 50
    • 84892892829 scopus 로고    scopus 로고
    • The concept of symptomatic epilepsy and the complexities of assigning cause in epilepsy.
    • Shorvon S. The concept of symptomatic epilepsy and the complexities of assigning cause in epilepsy. Epilepsy Behav 2014, 32:1-8.
    • (2014) Epilepsy Behav , vol.32 , pp. 1-8
    • Shorvon, S.1
  • 51
    • 84923076529 scopus 로고    scopus 로고
    • Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus
    • Johnson M.R., Behmoaras J., Bottolo L., Krishnan M.L., Pernhorst K., Santoscoy P.L., et al. Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus. Nat Commun 2015, 6:6031.
    • (2015) Nat Commun , vol.6 , pp. 6031
    • Johnson, M.R.1    Behmoaras, J.2    Bottolo, L.3    Krishnan, M.L.4    Pernhorst, K.5    Santoscoy, P.L.6


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