Epilepsy of infancy with migrating focal seizures or rigidity and multifocal seizure syndrome, lethal neonatal? Different emphases on a severe phenotype

被引：2
|
作者：
Guerrini, Renzo [1 ]
机构：
[1] Univ Florence, Childrens Hosp Anna Meyer, Neurosci Dept, Florence, Italy
来源：
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | 2020年 / 62卷 / 09期
关键词：
BRAT1; MUTATIONS;
D O I：
10.1111/dmcn.14445
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
This commentary is on the case series by Scheffer et al. To view this paper visit
引用
收藏
页码：1012 / 1012
页数：1
相关论文
共 18 条
  • [1] Cyclic seizures in lethal neonatal rigidity and multifocal seizure syndrome: expanding the phenotype of a rare entity
    Gorito, Vanessa
    Rocha, Helena
    Melo, Claudia
    Fonseca, Jacinta
    Pinheiro, Marta
    Ferreras, Cristina
    Leao, Miguel
    Sampaio, Mafalda
    Alves, Dilio
    Sousa, Raquel
    EPILEPTIC DISORDERS, 2021, 23 (05) : 765 - 768
  • [2] Migrating partial seizures in infancy: Expanding the phenotype of a rare seizure syndrome
    Marsh, E
    Melamed, SE
    Barron, T
    Clancy, RR
    EPILEPSIA, 2005, 46 (04) : 568 - 572
  • [3] Lethal Neonatal Rigidity and Multifocal Seizure Syndrome-A Misnamed Disorder?
    Hanes, Ilana
    Kozenko, Mariya
    Callen, David J. A.
    PEDIATRIC NEUROLOGY, 2015, 53 (06) : 535 - 540
  • [4] EPILEPSY OF INFANCY WITH MIGRATING FOCAL SEIZURES-EXPANDING THE PHENOTYPE AND EXPLORING THE AETIOLOGY
    Mctague, A.
    Kneen, R.
    Kurian, M.
    Appleton, R.
    Cross, H.
    EPILEPSIA, 2012, 53 : 228 - 228
  • [5] A Rare Case of Lethal Neonatal Rigidity and Multi-Focal Seizure Syndrome
    Balasundaram, Palanikumar
    Fijas, Melanie
    Nafday, Suhas
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2021, 13 (02)
  • [6] Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome
    Li, Weixi
    Wu, Shuiyan
    Xu, Huizhong
    Zhao, Xiaoying
    Pan, Yizhi
    Huang, Hongbiao
    Lv, Haitao
    Zhu, Xueping
    Liu, Ying
    PEDIATRIC RESEARCH, 2022, 91 (03) : 565 - 571
  • [7] Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome
    Weixi Li
    Shuiyan Wu
    Huizhong Xu
    Xiaoying Zhao
    Yizhi Pan
    Hongbiao Huang
    Haitao Lv
    Xueping Zhu
    Ying Liu
    Pediatric Research, 2022, 91 : 565 - 571
  • [8] Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype
    Gorman, Kathleen M.
    Forman, Eva
    Conroy, Judith
    Allen, Nicholas M.
    Shahwan, Amre
    Lynch, Sally A.
    Ennis, Sean
    King, Mary D.
    EPILEPSIA, 2017, 58 (07) : 1301 - 1302
  • [9] Case Report of BRAT1-associated Lethal Neonatal Rigidity and Multifocal Seizure Syndrome
    Eizadkhah, Donya
    Lax, Daniel
    NEUROLOGY, 2021, 96 (15)
  • [10] Lethal neonatal rigidity and multifocal seizure syndrome - Report of another family with a BRAT1 mutation
    Straussberg, Rachel
    Ganelin-Cohen, Esther
    Goldberg-Stern, Hadassah
    Tzur, Shay
    Behar, Doron M.
    Smirin-Yosef, Pola
    Salmon-Divon, Mali
    Basel-Vanagaite, Lina
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2015, 19 (02) : 240 - 242
12