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
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