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
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
  • [1] Identification of a Novel ASAH1 Gene Mutation in Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy
    Ahangari, Najmeh
    Arab, Fatemeh
    Babaei, Meisam
    IRANIAN JOURNAL OF CHILD NEUROLOGY, 2024, 18 (03) : 131 - 135
  • [2] Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1
    Zhou, Jie
    Tawk, Marcel
    Tiziano, Francesco Danilo
    Veillet, Julien
    Bayes, Monica
    Nolent, Flora
    Garcia, Virginie
    Servidei, Serenella
    Bertini, Enrico
    Castro-Giner, Francesc
    Renda, Yavuz
    Carpentier, Stephane
    Andrieu-Abadie, Nathalie
    Gut, Ivo
    Levade, Thierry
    Topaloglu, Haluk
    Melki, Judith
    AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 91 (01) : 5 - 14
  • [3] Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1
    Rubboli, Guido
    Veggiotti, Pierangelo
    Pini, Antonella
    Berardinelli, Angela
    Cantalupo, Gaetano
    Bertini, Enrico
    Tiziano, Francesco Danilo
    D'Amico, Adele
    Piazza, Elena
    Abiusi, Emanuela
    Fiori, Stefania
    Pasini, Elena
    Darra, Francesca
    Gobbi, Giuseppe
    Michelucci, Roberto
    EPILEPSIA, 2015, 56 (05) : 692 - 698
  • [4] Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1
    Yildiz, Edibe Pembegul
    Yesil, Gozde
    Bektas, Gonca
    Caliskan, Mine
    Tatli, Burak
    Aydinli, Nur
    Ozmen, Meral
    CLINICAL NEUROLOGY AND NEUROSURGERY, 2018, 164 : 47 - 49
  • [5] Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association
    Radhakrishnan, Divya M.
    Shree, Ritu
    Madhaw, Govind
    Manchanda, Rajat
    Mahadevan, Anita
    Kumar, Niraj
    JOURNAL OF NEUROSCIENCES IN RURAL PRACTICE, 2021, 12 (01) : 210 - 212
  • [6] ASSOCIATION OF PROGRESSIVE MYOCLONIC EPILEPSY AND SPINAL MUSCULAR-ATROPHY
    MARJANOVIC, B
    TODOROVIC, S
    DOZIC, S
    PEDIATRIC NEUROLOGY, 1993, 9 (02) : 147 - 150
  • [7] Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy
    Gan, Joanna J.
    Garcia, Virginie
    Tian, Jane
    Tagliati, Michele
    Parisi, Joseph E.
    Chung, Jeffrey M.
    Lewis, Richard
    Baloh, Robert
    Levade, Thierry
    Pierson, Tyler Mark
    NEUROMUSCULAR DISORDERS, 2015, 25 (12) : 959 - 963
  • [8] Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1
    Giraldez, Beatriz G.
    Guerrero-Lopez, Rosa
    Ortega-Moreno, Laura
    Verdu, Alfonso
    Carmen Carrascosa-Romero, M.
    Garcia-Campos, Oscar
    Garcia-Munozguren, Susana
    Manuel Pardal-Fernandez, Jose
    Serratosa, Jose M.
    NEUROMUSCULAR DISORDERS, 2015, 25 (03) : 222 - 224
  • [9] A novel variant of spinal muscular atrophy with progressive myoclonic epilepsy
    Haliloglu, G
    Chattopadhyay, A
    Skorodis, L
    Manzur, A
    Renda, Y
    Muntoni, F
    Topaloglu, H
    NEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 737 - 737
  • [10] ASAH1pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy
    Elsea, Sarah H.
    Solyom, Alexander
    Martin, Kirt
    Harmatz, Paul
    Mitchell, John
    Lampe, Christina
    Grant, Christina
    Selim, Laila
    Mungan, Neslihan Oneli
    Guelbert, Norberto
    Magnusson, Bo
    Sundberg, Erik
    Puri, Ratna
    Kapoor, Seema
    Arslan, Nur
    DiRocco, Maja
    Zaki, Maha
    Ozen, Seza
    Mahmoud, Iman G.
    Ehlert, Karoline
    Hahn, Andreas
    Gokcay, Gulden
    Torcoletti, Marta
    Ferreira, Carlos R.
    HUMAN MUTATION, 2020, 41 (09) : 1469 - 1487