Seizures and X-linked intellectual disability

被引：9

作者：

Stevenson, Roger E. ^{[1
]}

Holden, Kenton R. ^{[1
,2
]}

Rogers, R. Curtis ^{[1
]}

Schwartz, Charles E. ^{[1
]}

机构：

[1] Greenwood Genet Ctr, Greenwood, SC 29646 USA

[2] Med Univ S Carolina, Coll Med, Charleston, SC 29425 USA

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2012年 / 55卷 / 05期

关键词：

Epilepsy; Seizures; X-chromosome; X-linked; Intellectual disability; Syndrome; FORSSMAN-LEHMANN-SYNDROME; MENTAL-RETARDATION; INFANTILE SPASMS; PERIVENTRICULAR HETEROTOPIA; CEREBELLAR HYPOPLASIA; PHF6; MUTATIONS; EPILEPSY; DISORDER; FEMALES; GENE;

D O I：

10.1016/j.ejmg.2012.01.017

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Intellectual disability occurs as an isolated X-linked trait and as a component of recognizable X-linked syndromes in the company of somatic, metabolic, neuromuscular, or behavioral abnormalities. Seizures accompany intellectual disability in almost half of these X-linked disorders. The spectrum of seizures found in the X-linked intellectual disability syndromes is broad, varying in time of onset, type of seizure, and response to anticonvulsant therapy. The majority of the genes associated with XLID and seizures have now been identified. (c) 2012 Elsevier Masson SAS. All rights reserved.

引用

页码：307 / 312

页数：6

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