-
2
-
-
84872271096
-
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
-
-
DisGeNET http://www.disgenet.org/web/DisGeNET/v2.1;jsessionid=zp7sk63z1ct88lqbcbotfi7z.
-
DisGeNET
-
-
-
5
-
-
84859511813
-
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
-
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
-
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
-
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
-
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
-
10
-
-
84929075930
-
SPTAN1 encephalopathy: distinct phenotypes and genotypes
-
Tohyama J., Nakashima M., Nabatame S., Gaik-Siew C., Miyata R., Rener-Primec Z., et al. SPTAN1 encephalopathy: distinct phenotypes and genotypes. J Hum Genet 2015, 29.
-
(2015)
J Hum Genet
, vol.29
-
-
Tohyama, J.1
Nakashima, M.2
Nabatame, S.3
Gaik-Siew, C.4
Miyata, R.5
Rener-Primec, Z.6
-
11
-
-
84902544328
-
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
-
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
-
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
-
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
-
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
-
16
-
-
84872119988
-
Molybdenum cofactor deficiency: review of 12 cases (MoCD and review)
-
Bayram E., Topcu Y., Karakaya P., Yis U., Cakmakci H., Ichida K., et al. Molybdenum cofactor deficiency: review of 12 cases (MoCD and review). Eur J Paediatr Neurol 2013, 17(1):1-6.
-
(2013)
Eur J Paediatr Neurol
, vol.17
, Issue.1
, pp. 1-6
-
-
Bayram, E.1
Topcu, Y.2
Karakaya, P.3
Yis, U.4
Cakmakci, H.5
Ichida, K.6
-
17
-
-
84866973925
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
26
-
-
59149100383
-
Neuronal migration disorders: clinical, neuroradiologic and genetics aspects
-
Spalice A., Parisi P., Nicita F., Pizzardi G., Del Balzo F., Iannetti P. Neuronal migration disorders: clinical, neuroradiologic and genetics aspects. Acta Paediatr 2009, 98(3):421-433.
-
(2009)
Acta Paediatr
, vol.98
, Issue.3
, pp. 421-433
-
-
Spalice, A.1
Parisi, P.2
Nicita, F.3
Pizzardi, G.4
Del Balzo, F.5
Iannetti, P.6
-
27
-
-
79953689051
-
The genetics of Dravet syndrome
-
Marini C., Scheffer I.E., Nabbout R., Suls A., De Jonghe P., Zara F., et al. The genetics of Dravet syndrome. Epilepsia 2011, 52(Suppl. 2):24-29.
-
(2011)
Epilepsia
, vol.52
, pp. 24-29
-
-
Marini, C.1
Scheffer, I.E.2
Nabbout, R.3
Suls, A.4
De Jonghe, P.5
Zara, F.6
-
28
-
-
77955883759
-
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
-
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
-
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
-
31
-
-
84901243768
-
Mitochondrial disorders and epilepsy
-
Desguerre I., Hully M., Rio M., Nabbout R. Mitochondrial disorders and epilepsy. Rev Neurol (Paris) 2014, 170(5):375-380.
-
(2014)
Rev Neurol (Paris)
, vol.170
, Issue.5
, pp. 375-380
-
-
Desguerre, I.1
Hully, M.2
Rio, M.3
Nabbout, R.4
-
32
-
-
84890138632
-
Mitochondrial dysfunction in epilepsy
-
Khurana D.S., Valencia I., Goldenthal M.J., Legido A. Mitochondrial dysfunction in epilepsy. Semin Pediatr Neurol 2013, 20(3):176-187.
-
(2013)
Semin Pediatr Neurol
, vol.20
, Issue.3
, pp. 176-187
-
-
Khurana, D.S.1
Valencia, I.2
Goldenthal, M.J.3
Legido, A.4
-
33
-
-
84894314664
-
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
-
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
-
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
-
37
-
-
84901243768
-
Mitochondrial disorders and epilepsy
-
Desguerre I., Hully M., Rio M., Nabbout R. Mitochondrial disorders and epilepsy. Rev Neurol (Paris) 2014, 170(5):375-380.
-
(2014)
Rev Neurol (Paris)
, vol.170
, Issue.5
, pp. 375-380
-
-
Desguerre, I.1
Hully, M.2
Rio, M.3
Nabbout, R.4
-
38
-
-
84871845543
-
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
-
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
-
40
-
-
33749245512
-
Epileptogenesis-related genes revisited
-
Lukasiuk K., Dabrowski M., Adach A., Pitkänen A. Epileptogenesis-related genes revisited. Prog Brain Res 2006, 158:223-241.
-
(2006)
Prog Brain Res
, vol.158
, pp. 223-241
-
-
Lukasiuk, K.1
Dabrowski, M.2
Adach, A.3
Pitkänen, A.4
-
41
-
-
84880759439
-
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
-
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
-
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
-
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
-
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
-
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
-
47
-
-
84871179279
-
Inborn errors of metabolism causing epilepsy
-
Rahman S., Footitt E.J., Varadkar S., Clayton P.T. Inborn errors of metabolism causing epilepsy. Dev Med Child Neurol 2013, 55(1):23-36.
-
(2013)
Dev Med Child Neurol
, vol.55
, Issue.1
, pp. 23-36
-
-
Rahman, S.1
Footitt, E.J.2
Varadkar, S.3
Clayton, P.T.4
-
48
-
-
84899107506
-
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
-
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
-
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
-
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
|