PCDH19-related epilepsy

被引：0

作者：

Singhal, Nilika S. ^{[1
]}

Sullivan, Joseph E. ^{[1
,2
]}

机构：

[1] Univ Calif San Francisco, Dept Neurol, 350 Parnassus Ave,Suite 609, San Francisco, CA 94143 USA

[2] Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA

来源：

JOURNAL OF PEDIATRIC EPILEPSY | 2012年 / 1卷 / 03期

关键词：

PCDH19; epilepsy in females linked to mental retardation;

D O I：

10.3233/PEP-2012-028

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Mutations in the PCDH19 gene are an important cause of early-onset epilepsy in females along the spectrum of epilepsy in females linked to mental retardation. Patients often have cognitive impairment or behavioral disorders, but the severity of epilepsy and co-morbidities are quite variable. Genetic testing for this condition is crucial in order to provide the best medical management of seizures along with appropriate genetic counseling for the families of affected individuals.

引用

页码：179 / 184

页数：6

共 50 条

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