CDKL5 Encephalopathy in Males: Follow Up in Three Patients, New Insight in Phenotypical Spectrum and Overview of Literature

被引:0
|
作者
Varesio, C. [1 ]
Caporali, C. [1 ]
De Giorgis, V. [2 ]
Masnada, S. [1 ]
Freri, E. [3 ]
Valente, M. [4 ]
Papalia, G. [1 ]
Pasca, L. [1 ]
Cereda, C. [4 ]
Veggiotti, P. [5 ]
机构
[1] Univ Pavia, IRCCS C Mondino Natl Neurol Inst, Child & Adolescence Neurol Dept, Pavia, Italy
[2] IRCCS C Mondino Natl Neurol Inst, Child & Adolescence Neurol Dept, Pavia, Italy
[3] Fdn Neurol Inst Carlo Besta, Dept Pediat Neurosci, Milan, Italy
[4] IRCCS, Natl Neurol Inst C Mondino, Genom & Postgenom Ctr, Pavia, Italy
[5] Children Hosp V Buzzi, Child Neurol Dept, Milan, 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
p238
引用
收藏
页码:S114 / S114
页数:1
相关论文
共 5 条
  • [1] CDKL5 deficiency disorder in males: Five new variants and review of the literature
    Siri, Barbara
    Varesio, Costanza
    Freri, Elena
    Darra, Francesca
    Gana, Simone
    Mei, Davide
    Porta, Francesco
    Fontana, Elena
    Galati, Giulia
    Solazzi, Roberta
    Niceta, Marcello
    Veggiotti, Pierangelo
    Alfei, Enrico
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2021, 33 : 9 - 20
  • [2] Clinical and electroencephalographic features in patients with CDKL5 mutations: Two new Italian cases and review of the literature
    Pintaudi, Maria
    Baglietto, Maria Giuseppina
    Gaggero, Roberto
    Parodi, Elena
    Pessagno, Alice
    Marchi, Margherita
    Russo, Silvia
    Veneselli, Edvige
    EPILEPSY & BEHAVIOR, 2008, 12 (02) : 326 - 331
  • [3] Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature
    Nemos, C.
    Lambert, L.
    Giuliano, F.
    Doray, B.
    Roubertie, A.
    Goldenberg, A.
    Delobel, B.
    Layet, V.
    N'guyen, M. A.
    Saunier, A.
    Verneau, F.
    Jonveaux, P.
    Philippe, C.
    CLINICAL GENETICS, 2009, 76 (04) : 357 - 371
  • [4] CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature
    Lilles, Stella
    Talvik, Inga
    Noormets, Klari
    Vaher, Ulvi
    Ounap, Katrin
    Reimand, Tiia
    Sander, Valentin
    Ilves, Pilvi
    Talvik, Tiina
    NEUROPEDIATRICS, 2016, 47 (06) : 361 - 367
  • [5] Extended duration safety and efficacy of adjunctive ganaxolone treatment in patients with CDKL5 deficiency disorder: 8-month minimum open-label extension follow-up
    Olson, H.
    Moosa, A.
    Rybak, E.
    Aimetti, A.
    Hulihan, J.
    Pestana-Knight, E.
    EPILEPSIA, 2022, 63 : 235 - 236