Genes in infantile epileptic encephalopathies

被引:0
|
作者
Depienne, Christel [2 ,3 ,4 ]
Gourfinkel-An, Isabelle [2 ,3 ,4 ,5 ]
Baulac, Stephanie [2 ,3 ,4 ]
LeGuern, Eric [1 ,2 ,3 ,4 ]
机构
[1] Hop La Pitie Salpetriere, AP HP, Unit Fonct Neurogenet Mol & Cellulaire, Ctr Genet Mol & Cellulaire,Dept Genet & Cytogenet, F-75651 Paris 13, France
[2] CRICM, INSERM, U975, Paris, France
[3] Univ Paris 06, UMR S975, Paris, France
[4] CNRS, UMR7225, Paris, France
[5] Hop La Pitie Salpetriere, Reference Ctr Rare Epilepsies, Epileptol Unit, Paris, France
关键词
Epileptic encephalopathies; Dravet syndrome; PCDH19; Protocadherin; Seizures; X-linked; MUTATIONS;
D O I
10.1111/j.1528-1167.2010.02855.x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Patients with infantile epileptic encephalopathies are often isolated cases with or without a limited familial history of epilepsy, suggesting a complex mode of inheritance. However, recent data, for example regarding Dravet syndrome, show that these sporadic rare diseases can result from a monogenic cause. For an expanded treatment of this topic see Jasper's Basic Mechanisms of the Epilepsies, Fourth Edition (Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds) published by Oxford University Press (available on the National Library of Medicine Bookshelf [NCBI] at). © 2010 International League Against Epilepsy.
引用
收藏
页码:69 / 69
页数:1
相关论文
共 50 条
  • [1] A genetic diagnostic approach to infantile epileptic encephalopathies
    Kamien, Benjamin A.
    Cardamone, Michael
    Lawson, John A.
    Sachdev, Rani
    JOURNAL OF CLINICAL NEUROSCIENCE, 2012, 19 (07) : 934 - 941
  • [2] Epileptic Encephalopathies: New Genes and New Pathways
    Esmaeeli Nieh, Sahar
    Sherr, Elliott H.
    NEUROTHERAPEUTICS, 2014, 11 (04) : 796 - 806
  • [3] Epileptic Encephalopathies: New Genes and New Pathways
    Sahar Esmaeeli Nieh
    Elliott H. Sherr
    Neurotherapeutics, 2014, 11 : 796 - 806
  • [4] Genomic Investigation of Infantile and Childhood Epileptic Encephalopathies in Kazakhstan: An Urgent Priority
    Jaxybayeva, Altynshash
    Nauryzbayeva, Alissa
    Khamzina, Assem
    Takhanova, Meruert
    Abilhadirova, Assel
    Rybalko, Anastasia
    Jamanbekova, Kymbat
    FRONTIERS IN NEUROLOGY, 2021, 12
  • [5] Molecular bases and clinical spectrum of early infantile epileptic encephalopathies
    Asher, Y. Jane Tavyev
    Scaglia, Fernando
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2012, 55 (05) : 299 - 306
  • [6] Treatment of Epileptic Encephalopathies
    Balestrini, Simona
    Sisodiya, Sanjay M.
    CURRENT PHARMACEUTICAL DESIGN, 2017, 23 (37) : 5667 - 5690
  • [7] Precision Medicine Approaches for Infantile-Onset Developmental and Epileptic Encephalopathies
    Myers, Kenneth A.
    Scheffer, Ingrid E.
    ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY, 2022, 62 : 641 - 662
  • [8] Epileptic encephalopathies
    Ramos-Lizana, Julio
    REVISTA DE NEUROLOGIA, 2017, 64 : S45 - S48
  • [9] Genetically determined epileptic encephalopathies
    Appendino, Juan Pablo
    Ignacio Appendino, Juan
    MEDICINA-BUENOS AIRES, 2019, 79 : 42 - 47
  • [10] Therapeutic approach to epileptic encephalopathies
    Vigevano, Federico
    Arzimanoglou, Alexis
    Plouin, Perrine
    Specchio, Nicola
    EPILEPSIA, 2013, 54 : 45 - 50