DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene

被引：17
|
作者：
Kolnikova, Miriam [1 ,2 ]
Skopkova, Martina [3 ]
Ilencikova, Denisa [2 ,4 ]
Foltan, Tomas [1 ,2 ]
Payerova, Jaroslava [1 ,2 ]
Danis, Daniel [3 ]
Klimes, Iwar [3 ]
Stanik, Juraj [2 ,3 ,4 ]
Gasperikova, Daniela [3 ]
机构：
[1] Comenius Univ, Dept Pediat Neurol, Fac Med, Bratislava, Slovakia
[2] Children Fac Hosp, Bratislava, Slovakia
[3] Slovak Acad Sci, Inst Expt Endocrinol, Biomed Res Ctr, Lab Diabet & Metab Disorders, Dubravska Cesta 9, Bratislava 84505, Slovakia
[4] Comenius Univ, Dept Pediat, Fac Med, Bratislava, Slovakia
来源：
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY | 2018年 / 56卷
关键词：
Dynamin; 1; DNM1; gene; Epileptic encephalopathy; Hypomyelination;
D O I：
10.1016/j.seizure.2018.01.020
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：31 / 33
页数：3
相关论文
共 50 条
  • [41] A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse
    Patterson, Edward E.
    Minor, Katie M.
    Tchernatynskaia, Anna V.
    Taylor, Susan M.
    Shelton, G. Diane
    Ekenstedt, Kari J.
    Mickelson, James R.
    NATURE GENETICS, 2008, 40 (10) : 1235 - 1239
  • [42] Nicotine modulates expression of miR-140*, which targets the 3′-untranslated region of dynamin 1 gene (Dnm1)
    Huang, Weihua
    Li, Ming D.
    INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY, 2009, 12 (04): : 537 - 546
  • [43] Association of mitochondria with microtubules inhibits mitochondrial fission by precluding assembly of the fission protein Dnm1
    Mehta, Kritika
    Chacko, Leeba Ann
    Chug, Manjyot Kaur
    Jhunjhunwala, Siddharth
    Ananthanarayanan, Vaishnavi
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2019, 294 (10) : 3385 - 3396
  • [44] The dynamin-like protein Dnm1 mediates scission of the outer nuclear membrane in nuclear autophagy
    Mannino, P. J.
    Chandra, S.
    Thaller, D. J.
    Ader, N. R.
    Melia, T. J.
    Lusk, C. P.
    MOLECULAR BIOLOGY OF THE CELL, 2023, 34 (02) : 343 - 343
  • [45] A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a
    Harms, Frederike L.
    Weiss, Deike
    Lisfeld, Jasmin
    Alawi, Malik
    Kutsche, Kerstin
    NEUROGENETICS, 2023, 24 (03) : 171 - 180
  • [46] A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a
    Frederike L. Harms
    Deike Weiss
    Jasmin Lisfeld
    Malik Alawi
    Kerstin Kutsche
    neurogenetics, 2023, 24 : 171 - 180
  • [47] Glucose starvation induces mitochondrial fragmentation depending on the dynamin GTPase Dnm1/Drp1 in fission yeast
    Zheng, Fan
    Jia, Bowen
    Dong, Fenfen
    Liu, Ling
    Rasul, Faiz
    He, Jiajia
    Fu, Chuanhai
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2019, 294 (47) : 17725 - 17734
  • [48] Presence and impact of the exercise-induced collapse associated DNM1 mutation in Labrador retrievers and other breeds
    Minor, Katie M.
    Patterson, Edward E.
    Keating, Marguerite K.
    Gross, Stephanie D.
    Ekenstedt, Kari J.
    Taylor, Susan M.
    Mickelson, James R.
    VETERINARY JOURNAL, 2011, 189 (02): : 214 - 219
  • [49] De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy
    Tarailo-Graovac, Maja
    Zahir, Farah R.
    Zivkovic, Irena
    Moksa, Michelle
    Selby, Kathryn
    Sinha, Sunita
    Nislow, Corey
    Stockler-Ipsiroglu, Sylvia G.
    Sheffer, Ruth
    Saada-Reisch, Ann
    Friedman, Jan M.
    van Karnebeek, Clara D. M.
    Horvath, Gabriella A.
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (10):
  • [50] Mitochondrial fission proteins Fis1 and Mdv1, but not Dnm1, play a role in maintenance of heteroplasmy in budding yeast
    Bradshaw, Elliot
    Yoshida, Minoru
    Ling, Feng
    FEBS LETTERS, 2012, 586 (08) : 1245 - 1251
12345