STORMY ONSET EPILEPSY IN GIRLS WITH DE NOVO PROTOCADHERIN 19 MUTATIONS

被引:0
|
作者
Specchio, N. [1 ]
Terracciano, A. [2 ]
Marini, C. [3 ]
Mei, D. [3 ]
Trivisano, M. [4 ]
Sicca, F. [5 ]
Fusco, L. [1 ]
Granata, T. [6 ]
Freri, E. [6 ]
Cusmai, R. [1 ]
Darra, F. [7 ]
Dalla Bernardina, B. [7 ]
Guerrini, R. [3 ]
Bertini, E. [2 ]
Vigevano, F. [1 ]
机构
[1] Bambino Gesu Pediat Hosp, IRCCS, Div Neurol, Rome, Italy
[2] Unit Mol Med Neuromuscular & Neurodegenerat Dis, Rome, Italy
[3] Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit & Labs, Florence, Italy
[4] Univ Foggia, Clin Nervous Syst Dis, Foggia, Italy
[5] IRCCS Stella Maris, Child Neurol & Psychiat Unit, Pisa, Italy
[6] Neurol Inst Besta, Milan, Italy
[7] Univ Verona, Child Neuropsychiat Unit, I-37100 Verona, Italy
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:21 / 21
页数:1
相关论文
共 50 条
  • [21] X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
    Dibbens, Leanne M.
    Tarpey, Patrick S.
    Hynes, Kim
    Bayly, Marta A.
    Scheffer, Ingrid E.
    Smith, Raffaella
    Bomar, Jamee
    Sutton, Edwina
    Vandeleur, Lucianne
    Shoubridge, Cheryl
    Edkins, Sarah
    Turner, Samantha J.
    Stevens, Claire
    O'Meara, Sarah
    Tofts, Calli
    Barthorpe, Syd
    Buck, Gemma
    Cole, Jennifer
    Halliday, Kelly
    Jones, David
    Lee, Rebecca
    Madison, Mark
    Mironenko, Tatiana
    Varian, Jennifer
    West, Sofie
    Widaa, Sara
    Wray, Paul
    Teague, John
    Dicks, Ed
    Butler, Adam
    Menzies, Andrew
    Jenkinson, Andrew
    Shepherd, Rebecca
    Gusella, James F.
    Afawi, Zaid
    Mazarib, Aziz
    Neufeld, Miriam Y.
    Kivity, Sara
    Lev, Dorit
    Lerman-Sagie, Tally
    Korczyn, Amos D.
    Derry, Christopher P.
    Sutherland, Grant R.
    Friend, Kathryn
    Shaw, Marie
    Corbett, Mark
    Kim, Hyung-Goo
    Geschwind, Daniel H.
    Thomas, Paul
    Haan, Eric
    [J]. NATURE GENETICS, 2008, 40 (06) : 776 - 781
  • [22] X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
    Tarpey, Patrick
    Dibbens, L. M.
    Hynes, K.
    Smith, R.
    Edkins, S.
    Teague, J.
    McKee, S.
    Ryan, S.
    Kivity, S.
    Schafer, I. E.
    Afawi, Z.
    Turner, S. J.
    Gusella, J. F.
    Sutton, E.
    Lev, D.
    Sutherland, G. R.
    Futreal, P. A.
    Stratton, M. R.
    Mulley, J. C.
    Gecz, J.
    [J]. JOURNAL OF MEDICAL GENETICS, 2008, 45 : S17 - S17
  • [23] X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
    Leanne M Dibbens
    Patrick S Tarpey
    Kim Hynes
    Marta A Bayly
    Ingrid E Scheffer
    Raffaella Smith
    Jamee Bomar
    Edwina Sutton
    Lucianne Vandeleur
    Cheryl Shoubridge
    Sarah Edkins
    Samantha J Turner
    Claire Stevens
    Sarah O'Meara
    Calli Tofts
    Syd Barthorpe
    Gemma Buck
    Jennifer Cole
    Kelly Halliday
    David Jones
    Rebecca Lee
    Mark Madison
    Tatiana Mironenko
    Jennifer Varian
    Sofie West
    Sara Widaa
    Paul Wray
    John Teague
    Ed Dicks
    Adam Butler
    Andrew Menzies
    Andrew Jenkinson
    Rebecca Shepherd
    James F Gusella
    Zaid Afawi
    Aziz Mazarib
    Miriam Y Neufeld
    Sara Kivity
    Dorit Lev
    Tally Lerman-Sagie
    Amos D Korczyn
    Christopher P Derry
    Grant R Sutherland
    Kathryn Friend
    Marie Shaw
    Mark Corbett
    Hyung-Goo Kim
    Daniel H Geschwind
    Paul Thomas
    Eric Haan
    [J]. Nature Genetics, 2008, 40 : 776 - 781
  • [24] Stormy onset of benign childhood epilepsy with occipital paroxysmal discharges
    Verrotti, A
    Domizio, S
    Melchionda, D
    Guerra, M
    Mucedola, T
    Onofrj, M
    Chiarelli, F
    Sabatino, G
    [J]. CHILDS NERVOUS SYSTEM, 2000, 16 (01) : 35 - 38
  • [26] De Novo STXBP1 Mutations in Mental Retardation and Nonsyndromic Epilepsy
    Hamdan, Fadi F.
    Piton, Amelie
    Gauthier, Julie
    Lortie, Anne
    Dubeau, Francois
    Dobrzeniecka, Sylvia
    Spiegelman, Dan
    Noreau, Anne
    Pellerin, Stephanie
    Cote, Melanie
    Henrion, Edouard
    Fombonne, Eric
    Mottron, Laurent
    Marineau, Claude
    Drapeau, Pierre
    Lafreniere, Ronald G.
    Lacaille, Jean Claude
    Rouleau, Guy A.
    Michaud, Jacques L.
    [J]. ANNALS OF NEUROLOGY, 2009, 65 (06) : 748 - 753
  • [27] Protocadherin 19 Clustering Epilepsy and Neurosteroids: Opportunities for Intervention
    de Nys, Rebekah
    Kumar, Raman
    Gecz, Jozef
    [J]. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (18)
  • [28] COVID-19, de novo seizures, and epilepsy: a systematic review
    Ali A. Asadi-Pooya
    Leila Simani
    Mina Shahisavandi
    Zohreh Barzegar
    [J]. Neurological Sciences, 2021, 42 : 415 - 431
  • [29] COVID-19, de novo seizures, and epilepsy: a systematic review
    Asadi-Pooya, Ali A.
    Simani, Leila
    Shahisavandi, Mina
    Barzegar, Zohreh
    [J]. NEUROLOGICAL SCIENCES, 2021, 42 (02) : 415 - 431
  • [30] Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
    Hynes, Kim
    Tarpey, Patrick
    Dibbens, Leanne M.
    Bayly, Marta A.
    Berkovic, Samuel F.
    Smith, Raffaella
    Al Raisi, Zahyia
    Turner, Samantha J.
    Brown, Natasha J.
    Desai, Tarishi D.
    Haan, Eric
    Turner, Gillian
    Christodoulou, John
    Leonard, Helen
    Gill, Deepak
    Stratton, Michael R.
    Gecz, Jozef
    Scheffer, Ingrid E.
    [J]. JOURNAL OF MEDICAL GENETICS, 2010, 47 (03) : 211 - 216