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

来源：

EPILEPSIA | 2010年 / 51卷

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

页码：69 / 69

页数：1

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