CHALLENGING BEHAVIOURAL AND AUTISTIC TRAITS WITH EPILEPSY IN 2 MALAYSIAN SIBLINGS WITH A NOVEL PIGA

来源 :The 2nd International Rare Diseases Research Consortium Conf | 被引量 : 0次 | 上传用户：snoopy_cp

【摘要】

：

【作者】

：

Winnie PT Ong Gaik Slew Ch'ng Hui Bein Chew Muzhirah Haniffa Huey Yin Leong Lock Hock Ngu Chihiro Ohba Hirotomo Saitsu Naomichi Matsumoto Wee Teik Keng

【机构】

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Department of Genetics,Hospital Kuala Lumpur,Malaysia

【出处】

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The 2nd International Rare Diseases Research Consortium Conf

【发表日期】

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2014年3期

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The Phosphatidylinositol Glycan Class A (PIGA) protein is essential for the first step of Glycosylphosphatidylinositol (GPI) anchor biosynthesis.GPl anchors are important for normal development,particularly of the CNS.Germline mutations in PIGA at Xp22.2 are now recognized to cause Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2).

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CHALLENGING BEHAVIOURAL AND AUTISTIC TRAITS WITH EPILEPSY IN 2 MALAYSIAN SIBLINGS WITH A NOVEL PIGA

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