Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation

被引：8
|
作者：
Akarsu, Emel Oguz [1 ]
Tekturk, Pinar [1 ]
Yapici, Zuhal [1 ]
Tepgec, Fatih [2 ]
Uyguner, Z. Oya [2 ]
Baykan, Betul [1 ]
机构：
[1] Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey
[2] Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey
来源：
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY | 2016年 / 42卷
关键词：
D O I：
10.1016/j.seizure.2016.09.007
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：49 / 51
页数：3
相关论文
共 46 条
  • [41] Myoclonic epilepsy with ragged red fibers syndrome associated with mitochondrial 3302A>G mutation in the MT-TL1 gene: A case report
    Huang, Gang
    Wang, Yanmei
    Yao, Dongyuan
    EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2023, 25 (02)
  • [42] Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene
    Dlamini, Nomazulu
    Josifova, Dragana J.
    Paine, Simon M. L.
    Wraige, Elizabeth
    Pitt, Matthew
    Murphy, Amanda J.
    King, Andrew
    Buk, Stefan
    Smith, Frances
    Abbs, Stephen
    Sewry, Caroline
    Jacques, Thomas S.
    Jungbluth, Heinz
    NEUROMUSCULAR DISORDERS, 2013, 23 (05) : 391 - 398
  • [43] Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in the IGHMBP2 gene
    Barisic, N.
    von Au, K.
    Rados, M.
    Pazanin, L.
    Galic, S.
    Cvitkovic, M.
    Novak, M.
    Lochmueller, H.
    Sperling, K.
    Lehman, I.
    Varon, R.
    NEUROMUSCULAR DISORDERS, 2006, 16 (9-10) : 653 - 653
  • [44] Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss-of-function ASCC1 gene mutation in two Bulgarian Roma patients
    Bradinova, Irena
    Andonova, Silvia
    Vazharova, Radoslava
    Tomova, Stiliyana
    Balabanski, Lubomir
    Savov, Alexey
    CLINICAL GENETICS, 2022, 102 (01) : 78 - 79
  • [45] A second case of spinal muscular atrophy with congenital bone fractures-2 due to rare loss of function mutation in ASCC1 gene in Bulgarian patient of Roma origin
    Bradinova, I.
    Andonova, S.
    Vazharova, R.
    Tomova, S.
    Raynova, R.
    Bichev, S.
    Kercheva, K.
    Savov, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1867 - 1868
  • [46] Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs
    Lee, Jessica
    Millington, Philip
    Dayasiri, Kavinda
    Ramdas, Sithara
    Jayawant, Sandeep
    Anand, Geetha
    TURKISH JOURNAL OF PEDIATRICS, 2023, 65 (03) : 531 - 535
12345