SCN1A mutation associated with atypical Panayiotopoulos syndrome

被引:43
作者
Grosso, S.
Orrico, A.
Galli, L.
Di Bartolo, R.
Sorrentino, V.
Balestri, P.
机构
[1] Univ Siena, Pediat Neurol Sect, Dept Pediat, I-53100 Siena, Italy
[2] Univ Siena, Dept Neurosci, Mol Med Sect, I-53100 Siena, Italy
关键词
D O I
10.1212/01.wnl.0000266666.10404.53
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:609 / 611
页数:3
相关论文
共 8 条
  • [1] Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
    Abou-Khalil, B
    Ge, Q
    Desai, R
    Ryther, R
    Bazyk, A
    Bailey, R
    Haines, JL
    Sutcliffe, JS
    George, AL
    [J]. NEUROLOGY, 2001, 57 (12) : 2265 - 2272
  • [2] Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus
    Annesi, G
    Gambardella, A
    Carrideo, S
    Incorpora, G
    Labate, A
    Pasqua, AA
    Civitelli, D
    Polizzi, A
    Annesi, F
    Spadafora, P
    Tarantino, P
    Candiano, ICC
    Romeo, N
    De Marco, EV
    Ventura, P
    LePiane, E
    Zappia, M
    Aguglia, U
    Pavone, L
    Quattrone, A
    [J]. EPILEPSIA, 2003, 44 (09) : 1257 - 1258
  • [3] Panayiotopoulos syndrome: A consensus view
    Ferrie, C
    Caraballo, R
    Covanis, A
    Demirbilek, V
    Dervent, A
    Kivity, S
    Koutroumanidis, M
    Martinovic, Z
    Oguni, H
    Verrotti, A
    Vigevano, F
    Watanabe, K
    Yalcin, D
    Yoshinaga, H
    [J]. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2006, 48 (03) : 236 - 240
  • [4] Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel α1 subunit gene, SCN1A
    Ito, M
    Nagafuji, H
    Okazawa, H
    Yamakawa, K
    Sugawara, T
    Mazaki-Miyazaki, E
    Hirose, S
    Fukuma, G
    Mitsudome, A
    Wada, K
    Kaneko, S
    [J]. EPILEPSY RESEARCH, 2002, 48 (1-2) : 15 - 23
  • [5] SCN1A mutations and epilepsy
    Mulley, JC
    Scheffer, IE
    Petrou, S
    Dibbens, LA
    Berkovic, SF
    Harkin, LA
    [J]. HUMAN MUTATION, 2005, 25 (06) : 535 - 542
  • [6] Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations
    Scheffer, Ingrid E.
    Harkin, Louise A.
    Grinton, Bronwyn E.
    Dibbens, Leanne M.
    Turner, Samantha J.
    Zielinski, Marta A.
    Xu, Ruwei
    Jackson, Graeme
    Adams, Judith
    Connellan, Mary
    Petrou, Steven
    Wellard, R. Mark
    Briellmann, Regula S.
    Wallace, Robyn H.
    Mulley, John C.
    Berkovic, Samuel F.
    [J]. BRAIN, 2007, 130 : 100 - 109
  • [7] Singh R, 1999, ANN NEUROL, V45, P75, DOI 10.1002/1531-8249(199901)45:1<75::AID-ART13>3.0.CO
  • [8] 2-W