Literature DB >> 29414593

A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay.

Karen J Low1, M James2, P M Sharples3, M Eaton4, S Jenkinson5, D D D Study6, S F Smithson7.   

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Year:  2018        PMID： 29414593     DOI： 10.1016/j.seizure.2018.01.013

Source DB:  PubMed          Journal:  Seizure        ISSN： 1059-1311            Impact factor:   3.184


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  4 in total

1.  A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.

Authors:  Christiane M Neuhofer; Rudolf Funke; Bernd Wilken; Alexej Knaus; Janine Altmüller; Peter Nürnberg; Yun Li; Bernd Wollnik; Peter Burfeind; Silke Pauli
Journal:  Mol Syndromol       Date:  2020-02-05

2.  The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.

Authors:  Xiangyu Liu; Jing Meng; Jinhui Ma; Jianbo Shu; Chunyu Gu; Xiaofang Chen; Dong Li; Chunquan Cai
Journal:  Mol Biol Rep       Date:  2022-09-18       Impact factor: 2.742

Review 3.  The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.

Authors:  Tenghui Wu; Fei Yin; Shiqi Guang; Fang He; Li Yang; Jing Peng
Journal:  Orphanet J Rare Dis       Date:  2020-05-28       Impact factor: 4.123

4.  Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS).

Authors:  Xianru Jiao; Jiao Xue; Pan Gong; Xinhua Bao; Ye Wu; Yuehua Zhang; Yuwu Jiang; Zhixian Yang
Journal:  Orphanet J Rare Dis       Date:  2020-03-27       Impact factor: 4.123
  4 in total

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