Periventricular heterotopia: An X-linked dominant epilepsy locus causing aberrant cerebral cortical development
Periventricular heterotopia: An X-linked dominant epilepsy locus causing aberrant cerebral cortical development
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DOI：
10.1016/s0896-6273(00)80025-2
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发表时间：
1996-01-01
期刊：
影响因子：
16.2
通讯作者：
Walsh, CA
中科院分区：
文献类型：
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作者：
Eksioglu, YZ;Scheffer, IE;Walsh, CA
脑室周围异位（PH）涉及人类大脑皮层的严重畸形。在这里，我们发现PH与Xq28远端标记密切相关（theta = 0时F8C的最大两点负荷得分= 4.77；最大多点负荷得分= 5.37），因此受影响的雌性是突变的强制性嵌合体；PH至少对一些受影响的男性是致命的；PH畸形由充满成人室管膜下区的分化良好的皮质神经元组成；患有PH的人患癫痫的风险很高，尽管他们没有其他神经或外部耻辱。PH基因除了在正常皮质发育中起关键作用外，还可能是一个重要的癫痫易感性位点。
Periventricular heterotopia (PH) involves dramatic malformations of the human cerebral cortex. Here we show that PH is closely linked to markers in distal Xq28 (maximal two-point lod score = 4.77 for F8C at theta = 0; maximal multipoint lod score = 5.37), so that affected females are obligatory mosaics for the mutation; that PH is lethal to at least some affected males; that PH malformations consist of well-differentiated cortical neurons filling the adult subependymal zone; and that individuals with PH are at high risk for epilepsy, though they have no other neurological or external stigmata. The PH gene may represent an important epilepsy susceptibility locus in addition to playing a key role in normal cortical development.