메뉴 건너뛰기




Volumn 16, Issue SUPPL. 1, 2012, Pages S5-

Diagnosis and long-term course of Dravet syndrome

Author keywords

Dravet syndrome; Genetics; Long term course; Phenotype; Prognosis; SCN1A

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; PROTEIN; PROTOCADHERIN 19; SCN1B PROTEIN; SODIUM CHANNEL NAV1.1; UNCLASSIFIED DRUG;

EID: 84865459825     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2012.04.007     Document Type: Review
Times cited : (55)

References (26)
  • 1
    • 0000737282 scopus 로고
    • Les epilepsies graves de l'enfant
    • C. Dravet Les epilepsies graves de l'enfant Vie Med 8 1978 543 548
    • (1978) Vie Med , vol.8 , pp. 543-548
    • Dravet, C.1
  • 3
    • 0031671808 scopus 로고    scopus 로고
    • Severe idiopathic generalised epilepsy of infancy with generalised tonic-clonic seizures
    • H. Doose, H. Lunau, E. Castiglione, and S. Waltz Severe idiopathic generalised epilepsy of infancy with generalised tonic-clonic seizures Neuropediatrics 29 1998 229 238
    • (1998) Neuropediatrics , vol.29 , pp. 229-238
    • Doose, H.1    Lunau, H.2    Castiglione, E.3    Waltz, S.4
  • 4
    • 0344672944 scopus 로고    scopus 로고
    • Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
    • T. Fujiwara, T. Sugawara, and E. Mazaki-Miyazaki Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures Brain 126 2003 531 546
    • (2003) Brain , vol.126 , pp. 531-546
    • Fujiwara, T.1    Sugawara, T.2    Mazaki-Miyazaki, E.3
  • 5
    • 33947123754 scopus 로고    scopus 로고
    • The spectrum of SCN1A-related infantile epileptic encephalopathies
    • L.A. Harkin, J.M. McMahon, and X. Iona The spectrum of SCN1A-related infantile epileptic encephalopathies Brain 130 2007 843 852
    • (2007) Brain , vol.130 , pp. 843-852
    • Harkin, L.A.1    McMahon, J.M.2    Iona, X.3
  • 6
    • 10744227466 scopus 로고    scopus 로고
    • Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)
    • G. Fukuma, H. Oguni, and Y. Shirasaka Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB) Epilepsia 45 2004 140 148
    • (2004) Epilepsia , vol.45 , pp. 140-148
    • Fukuma, G.1    Oguni, H.2    Shirasaka, Y.3
  • 7
    • 34249774883 scopus 로고    scopus 로고
    • Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations
    • P. Striano, M. Mancardi, and R. Biancheri Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations Epilepsia 48 2007 1092 1096
    • (2007) Epilepsia , vol.48 , pp. 1092-1096
    • Striano, P.1    Mancardi, M.2    Biancheri, R.3
  • 8
    • 18244395319 scopus 로고    scopus 로고
    • Hippocampal sclerosis in severe myoclonic epilepsy in infancy: A retrospective MRI study
    • Z. Siegler, P. Barsi, and M. Neuwirth Hippocampal sclerosis in severe myoclonic epilepsy in infancy: a retrospective MRI study Epilepsia 46 2005 704 708
    • (2005) Epilepsia , vol.46 , pp. 704-708
    • Siegler, Z.1    Barsi, P.2    Neuwirth, M.3
  • 9
    • 62149088190 scopus 로고    scopus 로고
    • Spectrum of SCN1A gene mutations associated with Dravet syndrome: Analysis of 333 patients
    • C. Depienne, O. Trouillard, and C. Saint-Martin Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients J Med Genet 46 2009 183 191
    • (2009) J Med Genet , vol.46 , pp. 183-191
    • Depienne, C.1    Trouillard, O.2    Saint-Martin, C.3
  • 10
    • 33749019686 scopus 로고    scopus 로고
    • A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A
    • J.C. Mulley, P. Nelson, and S. Guerrero A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A Neurology 67 2006 1094 1095
    • (2006) Neurology , vol.67 , pp. 1094-1095
    • Mulley, J.C.1    Nelson, P.2    Guerrero, S.3
  • 11
    • 33748339365 scopus 로고    scopus 로고
    • Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients
    • A. Suls, K.G. Claeys, and D. Goossens Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients Hum Mutat 27 2006 914 920
    • (2006) Hum Mutat , vol.27 , pp. 914-920
    • Suls, A.1    Claeys, K.G.2    Goossens, D.3
  • 12
    • 67649985908 scopus 로고    scopus 로고
    • SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
    • C. Marini, I.E. Scheffer, and R. Nabbout SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis Epilepsia 50 2009 1670 1678
    • (2009) Epilepsia , vol.50 , pp. 1670-1678
    • Marini, C.1    Scheffer, I.E.2    Nabbout, R.3
  • 14
    • 10744226685 scopus 로고    scopus 로고
    • Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
    • R. Nabbout, E. Gennaro, and B. Dalla Bernardina Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy Neurology 60 2003 1961 1967
    • (2003) Neurology , vol.60 , pp. 1961-1967
    • Nabbout, R.1    Gennaro, E.2    Dalla Bernardina, B.3
  • 15
    • 77953701040 scopus 로고    scopus 로고
    • Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
    • C. Depienne, O. Trouillard, and I. Gourfinkel-An Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome J Med Genet 47 2010 404 410
    • (2010) J Med Genet , vol.47 , pp. 404-410
    • Depienne, C.1    Trouillard, O.2    Gourfinkel-An, I.3
  • 16
    • 33749678419 scopus 로고    scopus 로고
    • SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy
    • Morimoto, E. Mazaki, and A. Nishimura SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy Epilepsia 47 2006 1732 1736
    • (2006) Epilepsia , vol.47 , pp. 1732-1736
    • Morimoto1    Mazaki, E.2    Nishimura, A.3
  • 17
    • 31444454192 scopus 로고    scopus 로고
    • Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy
    • E. Gennaro, F.M. Santorelli, and E. Bertini Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy Biochem Biophys Res Commun 341 2006 489 493
    • (2006) Biochem Biophys Res Commun , vol.341 , pp. 489-493
    • Gennaro, E.1    Santorelli, F.M.2    Bertini, E.3
  • 18
    • 33749675112 scopus 로고    scopus 로고
    • Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy
    • C. Depienne, A. Arzimanoglou, and O. Trouillard Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy Hum Mutat 27 2006 389
    • (2006) Hum Mutat , vol.27 , pp. 389
    • Depienne, C.1    Arzimanoglou, A.2    Trouillard, O.3
  • 19
    • 33749661352 scopus 로고    scopus 로고
    • Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy
    • C. Marini, D. Mei, J. Helen Cross, and R. Guerrini Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy Epilepsia 47 2006 1737 1740
    • (2006) Epilepsia , vol.47 , pp. 1737-1740
    • Marini, C.1    Mei, D.2    Helen Cross, J.3    Guerrini, R.4
  • 20
    • 61449230751 scopus 로고    scopus 로고
    • Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
    • C. Depienne, D. Bouteiller, and B. Keren Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females PLoS Genet 5 2009 e1000381
    • (2009) PLoS Genet , vol.5 , pp. 1000381
    • Depienne, C.1    Bouteiller, D.2    Keren, B.3
  • 21
    • 0015149375 scopus 로고
    • A new familial form of convulsive disorder and mental retardation limited to females
    • R.C. Juberg, and C.D. Hellman A new familial form of convulsive disorder and mental retardation limited to females J Pediatr 79 1971 726 732
    • (1971) J Pediatr , vol.79 , pp. 726-732
    • Juberg, R.C.1    Hellman, C.D.2
  • 22
    • 41849135737 scopus 로고    scopus 로고
    • Epilepsy and mental retardation limited to females: An under-recognized disorder
    • I.E. Scheffer, S.J. Turner, and L.M. Dibbens Epilepsy and mental retardation limited to females: an under-recognized disorder Brain 131 2008 918 927
    • (2008) Brain , vol.131 , pp. 918-927
    • Scheffer, I.E.1    Turner, S.J.2    Dibbens, L.M.3
  • 23
    • 0036155260 scopus 로고    scopus 로고
    • Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus
    • L.A. Harkin, D.N. Bowser, L.M. Dibbens, and R.H. Wallace Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus Am J Hum Genet 70 2002 530 536
    • (2002) Am J Hum Genet , vol.70 , pp. 530-536
    • Harkin, L.A.1    Bowser, D.N.2    Dibbens, L.M.3    Wallace, R.H.4
  • 24
    • 69449089315 scopus 로고    scopus 로고
    • A functional null mutation of SCN1B in a patient with Dravet syndrome
    • G.A. Patino, L.R. Claes, and L.F. Lopez-Santiago A functional null mutation of SCN1B in a patient with Dravet syndrome J Neurosci 29 2009 10764 10778
    • (2009) J Neurosci , vol.29 , pp. 10764-10778
    • Patino, G.A.1    Claes, L.R.2    Lopez-Santiago, L.F.3
  • 25
    • 77954626810 scopus 로고    scopus 로고
    • A long-term follow-up study of Dravet syndrome up to adulthood
    • M. Akiyama, K. Kobayashi, H. Yoshinaga, and Y. Ohtsuka A long-term follow-up study of Dravet syndrome up to adulthood Epilepsia 51 2010 1043 1052
    • (2010) Epilepsia , vol.51 , pp. 1043-1052
    • Akiyama, M.1    Kobayashi, K.2    Yoshinaga, H.3    Ohtsuka, Y.4
  • 26
    • 33845956438 scopus 로고    scopus 로고
    • Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults
    • F.E. Jansen, L.G. Sadleir, and L.A. Harkin Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults Neurology 67 2006 2224 2226
    • (2006) Neurology , vol.67 , pp. 2224-2226
    • Jansen, F.E.1    Sadleir, L.G.2    Harkin, L.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.