Epileptic encephalopathy due to ATP1A2 gene mutation: clinical characteristics associated with three variants

被引：0
|
作者：
Lince-Rivera, I. [1 ]
Martinez Cordoba, N. [1 ]
Ortiz De la Rosa, J. S. [2 ]
机构：
[1] Univ Mil Nueva Granada, Bogota, Colombia
[2] Inst Roosevelt, Bogota, Colombia
来源：
EPILEPSIA | 2023年 / 64卷
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：
1002
引用
收藏
页码：378 / 379
页数：2
相关论文
共 50 条
  • [41] Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene
    Desprairies, Camille
    Valence, Stephanie
    Maurey, Helene
    Helal, Suzette I.
    Weckhuysen, Sarah
    Soliman, Hala
    Mefford, Heather C.
    Spentchian, Myrtille
    Heron, Delphine
    Leguern, Eric
    Nava, Caroline
    Bouilleret, Viviane
    Moretti, Raffaella
    Mignot, Cyril
    [J]. CLINICAL GENETICS, 2020, 97 (03) : 477 - 482
  • [42] Cognitive performance in familial hemiplegic migraine with ATP1A2 mutation
    Miranda, B.
    Maruta, C.
    Loureiro, C.
    Gouveia, R. S. G.
    Martins, I. P.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2018, 25 : 232 - 232
  • [43] Prolonged hemiplegic episodes in children due to mutations in ATP1A2
    Jen, J. C.
    Klein, A.
    Boltshauser, E.
    Cartwright, M. S.
    Roach, E. S.
    Mamsa, H.
    Baloh, R. W.
    [J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2007, 78 (05): : 523 - 526
  • [44] A novel ATP1A2 mutation in a family with FHM type II
    Pierelli, F
    Grieco, GS
    Pauri, F
    Pirro, C
    Fiermonte, G
    Ambrosini, A
    Costa, A
    Buzzi, MG
    Valoppi, M
    Caltagirone, C
    Nappi, G
    Santorelli, FM
    [J]. CEPHALALGIA, 2006, 26 (03) : 324 - 328
  • [45] A clinical case of autism in combination with epileptic encephalopathy and mental retardation due to SYNGAP1 mutation
    Gamirova, Rimma
    Gorobets, Elena
    Safina, Aisylu
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 455
  • [46] An extension to phenotypic spectrum of ATP1A2 gene or an unsolved
    Perva, I.
    Emandi, A. Chirita
    Epure, D.
    Puiu, M.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 332 - 332
  • [47] Epilepsy as part of the phenotype associated with ATP1A2 mutations
    Deprez, Liesbet
    Weckhuysen, Sarah
    Peeters, Katelijne
    Deconinck, Tine
    Claeys, Kristl G.
    Claes, Lieve R. F.
    Suls, Arvid
    Van Dyck, Tine
    Palmini, Andre
    Matthijs, Gert
    Van Paesschen, Wim
    De Jonghe, Peter
    [J]. EPILEPSIA, 2008, 49 (03) : 500 - 508
  • [48] The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns
    Hassani, Behzad Haj Mohammad
    Malekzadeh, Kianoosh
    [J]. NEUROGENETICS, 2024,
  • [49] Epilepsy as part of the phenotype associated with ATP1A2 mutations
    Weckhuysen, S.
    Peeters, K.
    Deprez, L.
    Deconinck, T.
    Claeys, K.
    Claes, L.
    Suls, A.
    Van Dyck, T.
    Palmini, A.
    De Jonghe, P.
    Van Paesschen, W.
    [J]. EPILEPSIA, 2007, 48 : 128 - 129
  • [50] Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy
    Al-Maawali, Almundher
    Al-Murshedi, Fathiya
    Al-Futaisi, Amna
    Mansy, Ahmed
    Al-Habsi, Asila
    Girisha, Katta M.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 (02) : 243 - 246
12345