메뉴 건너뛰기




Volumn 134, Issue 10, 2011, Pages 2982-3010

Dravet syndrome as epileptic encephalopathy: Evidence from long-term course and neuropathology

(21)  Catarino, Claudia B a,b   Liu, Joan Y W a   Liagkouras, Ioannis a   Gibbons, Vaneesha S a   Labrum, Robyn W a   Ellis, Rachael c   Woodward, Cathy a   Davis, Mary B a   Smith, Shelagh J a,b   Cross, J Helen d,e,f   Appleton, Richard E g   Yendle, Simone C h   McMahon, Jacinta M h   Bellows, Susannah T h   Jacques, Thomas S d,e   Zuberi, Sameer M c   Koepp, Matthias J a,b   Martinian, Lillian a   Scheffer, Ingrid E h   Thom, Maria a   more..


Author keywords

encephalopathy; epilepsy; neuropathology; SCN1A

Indexed keywords

ACETAZOLAMIDE; CALBINDIN; CALRETININ; CARBAMAZEPINE; CLOBAZAM; CLONAZEPAM; DIAZEPAM; ETHOSUXIMIDE; ETIRACETAM; GABAPENTIN; HARKOSERIDE; LAMOTRIGINE; NEUROPEPTIDE Y; NITRAZEPAM; OXCARBAZEPINE; PARVALBUMIN; PHENOBARBITAL; PHENYTOIN; PIRACETAM; PREGABALIN; PRIMIDONE; RUFINAMIDE; SODIUM CHANNEL NAV1.1; STIRIPENTOL; SULTIAME; TIAGABINE; TOPIRAMATE; VALPROIC ACID; VIGABATRIN; ZONISAMIDE;

EID: 80054087471     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awr129     Document Type: Article
Times cited : (171)

References (84)
  • 1
    • 77954626810 scopus 로고    scopus 로고
    • A long-term follow-up study of Dravet syndrome up to adulthood
    • Akiyama M, Kobayashi K, Yoshinaga H, Ohtsuka Y. A long-term follow-up study of Dravet syndrome up to adulthood. Epilepsia 2010; 51: 1043-52.
    • (2010) Epilepsia , vol.51 , pp. 1043-1052
    • Akiyama, M.1    Kobayashi, K.2    Yoshinaga, H.3    Ohtsuka, Y.4
  • 2
    • 44849124848 scopus 로고    scopus 로고
    • Do SCN1A mutations protect from hippocampal sclerosis?
    • DOI 10.1111/j.1528-1167.2008.01549-3.x
    • Auvin S, Dulac O, Vallée L. Do SCN1A mutations protect from hippo-campal sclerosis? Epilepsia 2008; 49: 1107-8. (Pubitemid 351794004)
    • (2008) Epilepsia , vol.49 , Issue.6 , pp. 1107-1108
    • Auvin, S.1    Dulac, O.2    Vallee, L.3
  • 4
    • 77950857874 scopus 로고    scopus 로고
    • Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
    • Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010; 51: 676-85.
    • (2010) Epilepsia , vol.51 , pp. 676-685
    • Berg, A.T.1    Berkovic, S.F.2    Brodie, M.J.3    Buchhalter, J.4    Cross, J.H.5    Van Emde Boas, W.6
  • 5
    • 33646506899 scopus 로고    scopus 로고
    • De novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: A retrospective study
    • Berkovic SF, Harkin L, McMahon JM, Pelekanos JT, Zuberi SM, Wirrell EC, et al. De novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol 2006; 5: 488-92.
    • (2006) Lancet Neurol , vol.5 , pp. 488-492
    • Berkovic, S.F.1    Harkin, L.2    McMahon, J.M.3    Pelekanos, J.T.4    Zuberi, S.M.5    Wirrell, E.C.6
  • 7
    • 78651274775 scopus 로고    scopus 로고
    • The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission
    • Blü mcke I, Thom M, Aronica E, Armstrong DD, Vinters HV, Palmini A, et al. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia 2011; 52: 158-74.
    • (2011) Epilepsia , vol.52 , pp. 158-174
    • Blü McKe I, T.1
  • 8
    • 75949087803 scopus 로고    scopus 로고
    • A topographic study of minicolumnar core width by lamina comparison between autistic subjects and controls: Possible minicolumnar disruption due to an anatomical element in-common to multiple laminae
    • Casanova MF, El-Baz A, Vanbogaert E, Narahari P, Switala A. A topographic study of minicolumnar core width by lamina comparison between autistic subjects and controls: possible minicolumnar disruption due to an anatomical element in-common to multiple laminae. Brain Pathol 2010; 20: 451-8.
    • (2010) Brain Pathol , vol.20 , pp. 451-458
    • Casanova, M.F.1    El-Baz, A.2    Vanbogaert, E.3    Narahari, P.4    Switala, A.5
  • 9
    • 58149326824 scopus 로고    scopus 로고
    • Inherited neuronal ion channelopathies: New windows on complex neurological diseases
    • Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D. Inherited neuronal ion channelopathies: new windows on complex neurological diseases. J Neurosci 2008; 28: 11768-77.
    • (2008) J Neurosci , vol.28 , pp. 11768-11777
    • Catterall, W.A.1    Dib-Hajj, S.2    Meisler, M.H.3    Pietrobon, D.4
  • 12
    • 0024317220 scopus 로고
    • Proposal for revised classification of epilepsies and epileptic syndromes
    • Commission on Classification and Terminology of the International League Against Epilepsy
    • Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989; 30: 389-99.
    • (1989) Epilepsia , vol.30 , pp. 389-399
  • 13
    • 0033869394 scopus 로고    scopus 로고
    • Patterns of cerebellar atrophy in patients with chronic epilepsy: A quantitative neuropathological study
    • DOI 10.1016/S0920-1211(00)00133-9, PII S0920121100001339
    • Crooks R, Mitchell T, Thom M. Patterns of cerebellar atrophy in patients with chronic epilepsy: a quantitative neuropathological study. Epilepsy Res 2000; 41: 63-73. (Pubitemid 30621402)
    • (2000) Epilepsy Research , vol.41 , Issue.1 , pp. 63-73
    • Crooks, R.1    Mitchell, T.2    Thom, M.3
  • 14
    • 50649114647 scopus 로고    scopus 로고
    • Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype-phenotype correlation and a comprehensive review of previously published cases
    • Davidsson J, Collin A, Olsson ME, Lundgren J, Soller M. Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: an array-based genotype-phenotype correlation and a comprehensive review of previously published cases. Epilepsy Res 2008; 81: 69-79.
    • (2008) Epilepsy Res , vol.81 , pp. 69-79
    • Davidsson, J.1    Collin, A.2    Olsson, M.E.3    Lundgren, J.4    Soller, M.5
  • 15
    • 35348991780 scopus 로고    scopus 로고
    • GEFS+ where focal seizures evolve from generalized spike wave: Video-EEG study of two children
    • DOI 10.1684/epd.2007.0126
    • Deng YH, Berkovic SF, Scheffer IE. GEFS+ where focal seizures evolve from generalized spike wave: video-EEG study of two children. Epileptic Disord 2007; 9: 307-14. (Pubitemid 47606314)
    • (2007) Epileptic Disorders , vol.9 , Issue.3 , pp. 307-314
    • Yu, H.D.1    Berkovic, S.F.2    Scheffer, I.E.3
  • 16
    • 33749675112 scopus 로고    scopus 로고
    • Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy
    • Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, Saint-Martin C, et al. Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Hum Mutat 2006; 27: 389.
    • (2006) Hum Mutat , vol.27 , pp. 389
    • Depienne, C.1    Arzimanoglou, A.2    Trouillard, O.3    Fedirko, E.4    Baulac, S.5    Saint-Martin, C.6
  • 17
    • 61449230751 scopus 로고    scopus 로고
    • Sporadic Infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet Syndrome but mainly affects females
    • Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, et al. Sporadic Infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet Syndrome but mainly affects females. PLoS Genet 2009a; 5: e1000381.
    • (2009) PLoS Genet , vol.5
    • Depienne, C.1    Bouteiller, D.2    Keren, B.3    Cheuret, E.4    Poirier, K.5    Trouillard, O.6
  • 20
    • 0000737282 scopus 로고
    • Les epilepsies graves de l'enfant
    • Dravet C. Les epilepsies graves de l'enfant. Vie Med 1978; 8: 543-8.
    • (1978) Vie Med , vol.8 , pp. 543-548
    • Dravet, C.1
  • 21
    • 33747155290 scopus 로고    scopus 로고
    • Severe myoclonic epilepsy in infancy (Dravet syndrome)
    • Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolff P, editors 4th edn. France: John Libbey Eurotext
    • Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O. Severe myoclonic epilepsy in infancy (Dravet syndrome). In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolff P, editors. Epileptic syndromes in infancy, childhood and adolescence. 4th edn. France: John Libbey Eurotext; 2005. p. 89-113.
    • (2005) Epileptic Syndromes in Infancy, Childhood and Adolescence , pp. 89-113
    • Dravet, C.1    Bureau, M.2    Oguni, H.3    Fukuyama, Y.4    Cokar, O.5
  • 23
    • 0020561801 scopus 로고
    • 'Baltic' myoclonus epilepsy: Hereditary disorder of childhood made worse by phenytoin
    • Eldridge R, Iivanainen M, Stern R, Koerber T, Wilder BJ. "Baltic" myo-clonus epilepsy: hereditary disorder of childhood made worse by phenytoin. Lancet 1983; 2: 838-42. (Pubitemid 13009274)
    • (1983) Lancet , vol.2 , Issue.8354 , pp. 838-842
    • Eldridge, R.1    Iivanainen, M.2    Stern, R.3
  • 24
    • 0034957202 scopus 로고    scopus 로고
    • A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE task force on classification and terminology
    • DOI 10.1046/j.1528-1157.2001.10401.x
    • Engel J Jr. International League Against Epilepsy (ILAE). A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001; 42: 796-803. (Pubitemid 32605946)
    • (2001) Epilepsia , vol.42 , Issue.6 , pp. 796-803
    • Engel Jr., J.1
  • 25
    • 0036498359 scopus 로고    scopus 로고
    • Upregulation in astrocytic connexin 43 gap junction levels may exacerbate generalized seizures in mesial temporal lobe epilepsy
    • DOI 10.1016/S0006-8993(01)03289-9, PII S0006899301032899
    • Fonseca CG, Green CR, Nicholson LF. Upregulation in astrocytic connexin 43 gap junction levels may exacerbate generalized seizures in mesial temporal lobe epilepsy. Brain Res 2002; 929: 105-16. (Pubitemid 34164415)
    • (2002) Brain Research , vol.929 , Issue.1 , pp. 105-116
    • Fonseca, C.G.1    Green, C.R.2    Nicholson, L.F.B.3
  • 26
    • 33750594715 scopus 로고    scopus 로고
    • Clinical spectrum of mutations in SCN1A gene: Severe myoclonic epilepsy in infancy and related epilepsies
    • Fujiwara T. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Epilepsy Res 2006; 70 (Suppl 1): S223-30.
    • (2006) Epilepsy Res , vol.70 , Issue.SUPPL. 1
    • Fujiwara, T.1
  • 27
    • 0031947590 scopus 로고    scopus 로고
    • Lamotrigine and seizure aggravation in severe myoclonic epilepsy
    • DOI 10.1111/j.1528-1157.1998.tb01413.x
    • Guerrini R, Dravet C, Genton P, Belmonte A, Kaminska A, Dulac O. Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia 1998; 39: 508-12. (Pubitemid 28221807)
    • (1998) Epilepsia , vol.39 , Issue.5 , pp. 508-512
    • Guerrini, R.1    Dravet, C.2    Genton, P.3    Belmonte, A.4    Kaminska, A.5    Dulac, O.6
  • 30
    • 4544320064 scopus 로고    scopus 로고
    • Susceptibility of immature and adult brains to seizure effects
    • DOI 10.1016/S1474-4422(04)00881-6, PII S1474442204008816
    • Haut SR, Veliskova J, Moshe SL. Susceptibility of immature and adult brains to seizure effects. Lancet Neurol 2004; 3: 608-17. (Pubitemid 39221927)
    • (2004) Lancet Neurology , vol.3 , Issue.10 , pp. 608-617
    • Haut, S.R.1    Velisskova, J.2    Moshe, S.L.3
  • 31
    • 79953687318 scopus 로고    scopus 로고
    • An autopsy case of severe myoclonic epilepsy of infancy, who died of acute encephalopathy associated with influenza infection
    • [Abstract]
    • Hayashi M, Sugai K, Kurihara E, Tamagawa K. An autopsy case of severe myoclonic epilepsy of infancy, who died of acute encephalopathy associated with influenza infection. Epilepsia 2004; 45 (Suppl 8): 65 [Abstract].
    • (2004) Epilepsia , vol.45 , Issue.SUPPL. 8 , pp. 65
    • Hayashi, M.1    Sugai, K.2    Kurihara, E.3    Tamagawa, K.4
  • 32
    • 0025279668 scopus 로고
    • Epidemiology of severe myoclonic epilepsy of infancy
    • Hurst DL. Epidemiology of severe myoclonic epilepsy of infancy. Epilepsia 1990; 31: 397-400. (Pubitemid 20226666)
    • (1990) Epilepsia , vol.31 , Issue.4 , pp. 397-400
    • Hurst, D.L.1
  • 34
    • 35348904490 scopus 로고    scopus 로고
    • Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: Implications for ataxia in severe myoclonic epilepsy in infancy
    • DOI 10.1523/JNEUROSCI.2162-07.2007
    • Kalume F, Yu FH, Westenbroek RE, Scheuer T, Catterall WA. Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy. J Neurosci 2007; 27: 11065-74. (Pubitemid 47574172)
    • (2007) Journal of Neuroscience , vol.27 , Issue.41 , pp. 11065-11074
    • Kalume, F.1    Yu, F.H.2    Westenbroek, R.E.3    Scheuer, T.4    Catterall, W.A.5
  • 37
    • 70349675760 scopus 로고    scopus 로고
    • Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity
    • Kanai K, Yoshida S, Hirose S, Oguni H, Kuwabara S, Sawai S, et al. Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity. J Med Genet 2009; 46: 671-9.
    • (2009) J Med Genet , vol.46 , pp. 671-679
    • Kanai, K.1    Yoshida, S.2    Hirose, S.3    Oguni, H.4    Kuwabara, S.5    Sawai, S.6
  • 39
    • 48249146963 scopus 로고    scopus 로고
    • Glial connexins and gap junctions in CNS inflammation and disease
    • Kielian T. Glial connexins and gap junctions in CNS inflammation and disease. J Neurochem 2008; 106: 1000-16.
    • (2008) J Neurochem , vol.106 , pp. 1000-1016
    • Kielian, T.1
  • 40
    • 77956317384 scopus 로고    scopus 로고
    • A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation
    • Le Gal F, Korff CM, Monso-Hinard C, Mund MT, et al. A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation. Epilepsia 2010; 51: 1915-8.
    • (2010) Epilepsi , vol.51 , pp. 1915-1918
    • Le Gal, F.1    Korff, C.M.2    Monso-Hinard, C.3    Mund, M.T.4
  • 41
    • 64249109642 scopus 로고    scopus 로고
    • A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus
    • Livingston JH, Cross JH, Mclellan A, Birch R, Zuberi SM. A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus. J Child Neurol 2009; 24: 503-8.
    • (2009) J Child Neurol , vol.24 , pp. 503-508
    • Livingston, J.H.1    Cross, J.H.2    McLellan, A.3    Birch, R.4    Zuberi, S.M.5
  • 42
    • 58249130592 scopus 로고    scopus 로고
    • A catalog of SCN1A variants
    • Lossin C. A catalog of SCN1A variants. Brain Dev 2009; 31: 114-30.
    • (2009) Brain Dev , vol.31 , pp. 114-130
    • Lossin, C.1
  • 44
    • 67649985908 scopus 로고    scopus 로고
    • SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
    • Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, et al. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 2009; 50: 1670-8.
    • (2009) Epilepsia , vol.50 , pp. 1670-1678
    • Marini, C.1    Scheffer, I.E.2    Nabbout, R.3    Mei, D.4    Cox, K.5    Dibbens, L.M.6
  • 45
    • 77951248599 scopus 로고    scopus 로고
    • Altered function of the SCN1A voltage-gated sodium channel leads to GABAergic interneuron abnormalities
    • Martin MS, Dutt K, Papale LA, Dube CM, Dutton SB, de Haan G, et al. Altered function of the SCN1A voltage-gated sodium channel leads to GABAergic interneuron abnormalities. J Biol Chem 2010; 285: 9823-34.
    • (2010) J Biol Chem , vol.285 , pp. 9823-9834
    • Martin, M.S.1    Dutt, K.2    Papale, L.A.3    Dube, C.M.4    Dutton, S.B.5    De Haan, G.6
  • 46
    • 51449116566 scopus 로고    scopus 로고
    • Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy
    • McArdle EJ, Kunic JD, George AL Jr. Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy. Am J Med Genet A 2008; 146A: 2421-3.
    • (2008) Am J Med Genet A , vol.146 A , pp. 2421-2423
    • McArdle, E.J.1    Kunic, J.D.2    George Jr., A.L.3
  • 47
    • 77953126432 scopus 로고    scopus 로고
    • Effects of vaccination on onset and outcome of Dravet syndrome: A retrospective study
    • McIntosh AM, McMahon J, Dibbens LM, Iona X, Scheffer IE, et al. Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurol 2010; 9: 592-8.
    • (2010) Lancet Neurol , vol.9 , pp. 592-598
    • McIntosh, A.M.1    McMahon, J.2    Dibbens, L.M.3    Iona, X.4    Scheffer, I.E.5
  • 48
    • 77954514571 scopus 로고    scopus 로고
    • The sodium channel gene family: Epilepsy mutations, gene interactions and modifier effects
    • Meisler MH, O'Brien JE, Sharkey LM. The sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. J Physiol 2010; 588: 1841-8.
    • (2010) J Physiol , vol.588 , pp. 1841-1848
    • Meisler, M.H.1    O'Brien, J.E.2    Sharkey, L.M.3
  • 49
    • 58449109530 scopus 로고    scopus 로고
    • Translational research in epilepsy genetics-sodium channels in man to interneuronopathy in mouse
    • Mullen SA, Scheffer IE. Translational research in epilepsy genetics-sodium channels in man to interneuronopathy in mouse. Arch Neurol 2009; 66: 21-6.
    • (2009) Arch Neurol , vol.66 , pp. 21-26
    • Mullen, S.A.1    Scheffer, I.E.2
  • 50
    • 62649142705 scopus 로고    scopus 로고
    • Temperature-and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy
    • Oakley JC, Kalume F, Yu FH, Scheuer T, Catterall WA. Temperature-and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy. PNAS 2009; 106: 3994-9.
    • (2009) PNAS , vol.106 , pp. 3994-3999
    • Oakley, J.C.1    Kalume, F.2    Yu, F.H.3    Scheuer, T.4    Catterall, W.A.5
  • 53
    • 69449089315 scopus 로고    scopus 로고
    • A functional null mutation of SCN1B in a patient with Dravet syndrome
    • Patino GA, Claes LRF, Lopez-Santiago LF, Slat EA, Dondeti RSR, Chen C, et al. A functional null mutation of SCN1B in a patient with Dravet syndrome. J Neurosci 2009; 29: 10764-78.
    • (2009) J Neurosci , vol.29 , pp. 10764-10778
    • Patino, G.A.1    Lrf, C.2    Lopez-Santiago, L.F.3    Slat, E.A.4    Rsr, D.5    Chen, C.6
  • 55
    • 0031883148 scopus 로고    scopus 로고
    • Antiepileptic drugs as a cause of worsening seizures
    • DOI 10.1111/j.1528-1157.1998.tb01268.x
    • Perucca E, Gram L, Avanzini G, Dulac O. Antiepileptic drugs as a cause of worsening seizures. Epilepsia 1998; 39: 5-17. (Pubitemid 28116836)
    • (1998) Epilepsia , vol.39 , Issue.1 , pp. 5-17
    • Perucca, E.1    Gram, L.2    Avanzini, G.3    Dulac, O.4
  • 56
    • 71849102130 scopus 로고    scopus 로고
    • Dravet syndrome: Early clinical manifestations and cognitive outcome in 37 Italian patients
    • Ragona F, Brazzo D, De Giorgi I, Morbi M, Freri E, Teutonico F, et al. Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients. Brain Dev 2010; 32: 71-7.
    • (2010) Brain Dev , vol.32 , pp. 71-77
    • Ragona, F.1    Brazzo, D.2    De Giorgi, I.3    Morbi, M.4    Freri, E.5    Teutonico, F.6
  • 57
    • 79951678915 scopus 로고    scopus 로고
    • Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients
    • Ragona F, Granata T, Bernardina BD, Offredi F, Darra F, Battaglia D, et al. Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients. Epilepsia 2011; 52: 386-92.
    • (2011) Epilepsia , vol.52 , pp. 386-392
    • Ragona, F.1    Granata, T.2    Bernardina, B.D.3    Offredi, F.4    Darra, F.5    Battaglia, D.6
  • 58
    • 36549071601 scopus 로고    scopus 로고
    • Innate and adaptive immunity during epileptogenesis and spontaneous seizures: Evidence from experimental models and human temporal lobe epilepsy
    • DOI 10.1016/j.nbd.2007.08.012, PII S0969996107001933
    • Ravizza T, Gagliardi B, Noé F, Boer K, Aronica E, Vezzani A. Innate and adaptive immunity during epileptogenesis and spontaneous seizures: Evidence from experimental models and human temporal lobe epilepsy. Neurobiol Dis 2008; 29: 142-60. (Pubitemid 350180489)
    • (2008) Neurobiology of Disease , vol.29 , Issue.1 , pp. 142-160
    • Ravizza, T.1    Gagliardi, B.2    Noe, F.3    Boer, K.4    Aronica, E.5    Vezzani, A.6
  • 59
    • 0025297597 scopus 로고
    • Clinical and neuropathologic findings in a case of severe myoclonic epilepsy of infancy
    • Renier WO, Renkawek K. Clinical and neuropathological findings in a case of severe myoclonic epilepsy of infancy. Epilepsia 1990; 31: 287-91. (Pubitemid 20181298)
    • (1990) Epilepsia , vol.31 , Issue.3 , pp. 287-291
    • Renier, W.O.1    Renkawek, K.2
  • 60
    • 55349091670 scopus 로고    scopus 로고
    • Risk of autism spectrum disorders after infantile spasms: A population-base study nested in a cohort with seizures in the first year of life
    • Saemundsen E, Ludvingsson P, Rafnsson V. Risk of autism spectrum disorders after infantile spasms: a population-base study nested in a cohort with seizures in the first year of life. Epilepsia 2008; 49: 1865-70.
    • (2008) Epilepsia , vol.49 , pp. 1865-1870
    • Saemundsen, E.1    Ludvingsson, P.2    Rafnsson, V.3
  • 61
    • 69149105137 scopus 로고    scopus 로고
    • Hemiconvulsion-hemiplegia syndrome in a patient with severe myo-clonic epilepsy in infancy
    • Sakakibara T, Nakagawa E, Saito Y, Sakuma H, Komaki H, Sugai K, et al. Hemiconvulsion-hemiplegia syndrome in a patient with severe myo-clonic epilepsy in infancy. Epilepsia 2009; 50: 2158-62.
    • (2009) Epilepsia , vol.50 , pp. 2158-2162
    • Sakakibara, T.1    Nakagawa, E.2    Saito, Y.3    Sakuma, H.4    Komaki, H.5    Sugai, K.6
  • 62
    • 79958780751 scopus 로고    scopus 로고
    • Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome
    • Advance Access published on April 14th, 2011, doi:10.1111/j.1528-1167. 2011.03053.x
    • Sakauchi M, Oguni H, Kato I, Osawa M, Hirose S, Kaneko S, et al. Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome. Epilepsia 2011. Advance Access published on April 14th, 2011, doi:10.1111/j.1528-1167.2011.03053.x.
    • (2011) Epilepsia
    • Sakauchi, M.1    Oguni, H.2    Kato, I.3    Osawa, M.4    Hirose, S.5    Kaneko, S.6
  • 63
    • 0027177389 scopus 로고
    • The neurological founding fathers of the National Society for Epilepsy and of the Chalfont Centre for Epilepsy
    • Sander JW, Barclay J, Shorvon SD. The neurological founding fathers of the National Society for Epilepsy and of the Chalfont Centre for Epilepsy. J Neurol Neurosurg Psychiatry 1993; 56: 599-604. (Pubitemid 23203756)
    • (1993) Journal of Neurology Neurosurgery and Psychiatry , vol.56 , Issue.6 , pp. 599-604
    • Sander, J.W.A.S.1    Barclay, J.2    Shorvon, S.D.3
  • 64
    • 79951678920 scopus 로고    scopus 로고
    • Does genotype determine phenotype? Sodium channel mutations in Dravet syndrome and GEFS+
    • Scheffer IE. Does genotype determine phenotype? Sodium channel mutations in Dravet syndrome and GEFS+. Neurology 2011; 76: 588-9.
    • (2011) Neurology , vol.76 , pp. 588-589
    • Scheffer, I.E.1
  • 65
    • 64449088896 scopus 로고    scopus 로고
    • Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
    • Scheffer IE, Zhang YH, Janssen FE, Dibbens L. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev 2009; 31: 394-400.
    • (2009) Brain Dev , vol.31 , pp. 394-400
    • Scheffer, I.E.1    Zhang, Y.H.2    Janssen, F.E.3    Dibbens, L.4
  • 66
  • 68
    • 70349668995 scopus 로고    scopus 로고
    • A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome
    • Singh NA, Pappas C, Dahle EJ, Claes LR, Pruess TH, De Jonghe P, et al. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS Genetics 2009; 5: e1000649.
    • (2009) PLoS Genetics , vol.5
    • Singh, N.A.1    Pappas, C.2    Dahle, E.J.3    Claes, L.R.4    Pruess, T.H.5    De Jonghe, P.6
  • 71
    • 67349213198 scopus 로고    scopus 로고
    • A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS + ) mutation
    • Tang B, Dutt K, Papale L, Rusconi R, Shankar A, Hunter J, et al. A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS + ) mutation. Neurobiol Dis 2009; 35: 91-102.
    • (2009) Neurobiol Dis , vol.35 , pp. 91-102
    • Tang, B.1    Dutt, K.2    Papale, L.3    Rusconi, R.4    Shankar, A.5    Hunter, J.6
  • 73
    • 70349693957 scopus 로고    scopus 로고
    • Bilateral synaptic reorganisation of the dentate gyrus in hippocampal sclerosis: A post-mortem study
    • Thom M, Martinian L, Catarino C, Yogarajah M, Koepp M, Caboclo L, et al. Bilateral synaptic reorganisation of the dentate gyrus in hippocampal sclerosis: a post-mortem study. Neurology 2009; 73: 1033-40.
    • (2009) Neurology , vol.73 , pp. 1033-1040
    • Thom, M.1    Martinian, L.2    Catarino, C.3    Yogarajah, M.4    Koepp, M.5    Caboclo, L.6
  • 74
    • 77956304482 scopus 로고    scopus 로고
    • Reliability of patterns of hippocampal sclerosis as predictors of postsurgical outcome
    • Thom M, Liagkouras I, Elliot KJ, Martinian L, Harkness W, McEvoy A, et al. Reliability of patterns of hippocampal sclerosis as predictors of postsurgical outcome. Epilepsia 2010; 51: 1801-8.
    • (2010) Epilepsi , vol.51 , pp. 1801-1808
    • Thom, M.1    Liagkouras, I.2    Elliot, K.J.3    Martinian, L.4    Harkness, W.5    McEvoy, A.6
  • 75
    • 46049103354 scopus 로고    scopus 로고
    • The role of cytokines in the pathophysiology of epilepsy
    • Vezzani A, Balomo S, Ravizza T. The role of cytokines in the pathophysiology of epilepsy. Brain Behav Immun 2008; 22: 797-803.
    • (2008) Brain Behav Immun , vol.22 , pp. 797-803
    • Vezzani, A.1    Balomo, S.2    Ravizza, T.3
  • 76
    • 33644625777 scopus 로고    scopus 로고
    • Brain inflammation in epilepsy: Experimental and clinical evidence
    • DOI 10.1111/j.1528-1167.2005.00298.x
    • Vezzani A, Granata T. Brain inflammation in epilepsy: experimental and clinical evidence. Epilepsia 2005; 46: 1724-43. (Pubitemid 44921957)
    • (2005) Epilepsia , vol.46 , Issue.11 , pp. 1724-1743
    • Vezzani, A.1    Granata, T.2
  • 77
    • 0033057715 scopus 로고    scopus 로고
    • Neuropeptide Y: Emerging evidence for a functional role in seizure modulation
    • DOI 10.1016/S0166-2236(98)01284-3
    • Vezzani A, Sperk G, Colmers WF. Neuropeptide Y: emerging evidence for a functional role in seizure modulation. Trends Neurosci 1999; 22: 25-30. (Pubitemid 29130080)
    • (1999) Trends in Neurosciences , vol.22 , Issue.1 , pp. 25-30
    • Vezzani, A.1    Sperk, G.2    Colmers, W.F.3
  • 79
    • 0021133550 scopus 로고
    • Freeze-fracture ultrastructure of the perinodal astrocyte and associated glial junctions
    • DOI 10.1016/0006-8993(84)90919-3
    • Waxman SG, Black JA. Freeze-fracture ultrastructure of the perinodal astrocyte and associated glial junctions. Brain Res 1984; 308: 77-87. (Pubitemid 14067723)
    • (1984) Brain Research , vol.308 , Issue.1 , pp. 77-87
    • Waxman, S.G.1    Black, J.A.2
  • 80
    • 0024268109 scopus 로고
    • Three-dimensional counting: An accurate and direct method to estimate numbers of cells in sectioned material
    • DOI 10.1002/cne.902780305
    • Williams RW, Rakic P. Three-dimensional counting: an accurate and direct method to estimate numbers of cells in sectioned material. J Comp Neurol 1988; 278: 344-52. (Pubitemid 19004342)
    • (1988) Journal of Comparative Neurology , vol.278 , Issue.3 , pp. 344-352
    • Williams, R.W.1    Rakic, P.2
  • 81
    • 33750576365 scopus 로고    scopus 로고
    • Severe myoclonic epilepsy of infants (Dravet syndrome): Natural history and neuropsychological findings
    • DOI 10.1111/j.1528-1167.2006.00688.x
    • Wolff M, Casse-Perrot C, Dravet C. Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Epilepsia 2006; 47 (Suppl 2): 45-8. (Pubitemid 44684620)
    • (2006) Epilepsia , vol.47 , Issue.SUPPL. 2 , pp. 45-48
    • Wolff, M.1    Casse-Perrot, C.2    Dravet, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.