Malformations of Cortical Development and Epilepsy

被引:104
|
作者
Barkovich, A. James [1 ]
Dobyns, William B. [2 ]
Guerrini, Renzo [3 ]
机构
[1] Univ Calif San Francisco, Dept Radiol & Biomed Imaging Neurol Pediat & Neur, San Francisco, CA 94143 USA
[2] Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA 98101 USA
[3] Univ Florence, Childrens Hosp Meyer, Pediat Neurol Unit & Labs, I-50139 Florence, Italy
来源
关键词
PERIVENTRICULAR NODULAR HETEROTOPIA; WALKER-WARBURG-SYNDROME; CONGENITAL MUSCULAR-DYSTROPHY; RECESSIVE CEREBELLAR HYPOPLASIA; BILATERAL PERISYLVIAN SYNDROME; BASEMENT-MEMBRANE INTEGRITY; NEURONAL MIGRATION; ABNORMAL GENITALIA; BRAIN MALFORMATION; GENE CAUSES;
D O I
10.1101/cshperspect.a022392
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
Malformations of cortical development (MCDs) are an important cause of epilepsy and an extremely interesting group of disorders from the perspective of brain development and its perturbations. Many new MCDs have been described in recent years as a result of improvements in imaging, genetic testing, and understanding of the effects of mutations on the ability of their protein products to correctly function within the molecular pathways by which the brain functions. In this review, most of the major MCDs are reviewed from a clinical, embryological, and genetic perspective. The most recent literature regarding clinical diagnosis, mechanisms of development, and future paths of research are discussed.
引用
收藏
页数:23
相关论文
共 50 条
  • [21] OUTCOMES AFTER EPILEPSY SURGERY FOR MALFORMATIONS OF CORTICAL DEVELOPMENT
    Barbaro, N.
    Chang, Edward F.
    Wang, D.
    Barkovich, A.
    Tihan, T.
    Sullivan, J.
    Garcia, P.
    EPILEPSIA, 2009, 50 : 460 - 460
  • [22] Brain somatic mutations in malformations of cortical development with epilepsy
    Baldassari, S.
    Ribierre, T.
    Baulac, S.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1059 - 1060
  • [23] Pathogenesis and pathology of focal malformations of cortical development and epilepsy
    Kuzniecky, RI
    Barkovich, AJ
    JOURNAL OF CLINICAL NEUROPHYSIOLOGY, 1996, 13 (06) : 468 - 480
  • [24] Epilepsy Related to Developmental Tumors and Malformations of Cortical Development
    Aronica, Eleonora
    Crino, Peter B.
    NEUROTHERAPEUTICS, 2014, 11 (02) : 251 - 268
  • [25] Familial epilepsy with unilateral and bilateral malformations of cortical development
    Bartolomei, F
    Gavaret, M
    Dravet, C
    Guerrini, R
    EPILEPSIA, 1999, 40 (01) : 47 - 51
  • [26] Genetic animal models of malformations of cortical development and epilepsy
    Wong, Michael
    Roper, Steven N.
    JOURNAL OF NEUROSCIENCE METHODS, 2016, 260 : 73 - 82
  • [27] Language Dominance in Patients With Malformations of Cortical Development and Epilepsy
    Kuchukhidze, Giorgi
    Siedentopf, Christian
    Unterberger, Iris
    Koppelstaetter, Florian
    Kronbichler, Martin
    Zamarian, Laura
    Haberlandt, Edda
    Ischebeck, Anja
    Delazer, Margarete
    Felber, Stephan
    Trinka, Eugen
    FRONTIERS IN NEUROLOGY, 2019, 10
  • [28] Focal malformations of cortical development: Epilepsy, autism, and dyslexia
    Crino, PB
    DYSLEXIC BRAIN: NEW PATHWAYS IN NEUROSCIENCE DISCOVERY, 2006, : 195 - 208
  • [29] Epilepsy Related to Developmental Tumors and Malformations of Cortical Development
    Eleonora Aronica
    Peter B. Crino
    Neurotherapeutics, 2014, 11 : 251 - 268
  • [30] Malformations of cortical development and epilepsy: Evaluation of 101 cases
    Gungor, J
    Yalnizoglu, D
    Turanli, G
    Saatci, I
    Erdogan, E
    Topcu, M
    EPILEPSIA, 2004, 45 : 98 - 98