Martin HC et al.Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis Hum Mol Genet. 2014;23(12):3200-11. PMID: 24463883
Starr LJ et al. PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype Am J Med Genet A. 2019;179(7):1270-1275. PMID: 31148362
Johnstone DL et al. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature J Inherit Metab Dis. 2020;43(6):1321-1332. PMID: 32588908
Zanni G et al. PIGQ Related Glycophosphatidylinositol Defciency Associated with Nonprogressive Congenital Ataxia Cerebellum. 2021 doi: 10.1007/s12311-021-01288-x. Online ahead of print.PMID: 34089469
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