A case of early onset epileptic encephalopathy caused by mutation of <i>PIGA</i> gene _Journal of Epilepsy

Authors：

PENG Kai , LI Hua ,  OUYANG Mei

Department of Epilepsy, Guangdong Sanjiu Brain Hospital, Guangzhou 510520, China;

Corresponding author：

OUYANG Mei, Email: oymsunny@sina.com

Keywords：

Early onset epileptic encephalopathy; PIGA gene; New mutation

DOI：

10.7507/2096-0247.20180051

Video：

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ObjectiveTo investigate the relationship between PIGA gene mutation and early-onset epileptic encephalopathy (EOEE).MethodsThe clinical materials of a EOEE children with PIGA gene mutation who admitted to Guangdong Sanjiu Brain Hosipital Epilepsy Pediatric in March 2016 were retrospectively analyzed. The databases of Wanfang, CNKI and PubMed were also reviewed to give a summary.ResultsThe child’s onset age was before 1-year-old, who has a family history of epilepsy. Electrophysiological and clinical diagnosis were EOEE, auxiliary examination of genetic metabolism, urine organic acids, blood biochemistry and other tests showed no abnormalities. Epilepsy gene detection found that PIGA gene has a new missense mutation, in line with the X-linked inheritance. The mutations leading to EOEE has been reported in foreign literature, but rarely reported in China.ConclusionThe new mutations of X-linked PIGA gene are more likely to be the causative genes of some.

Citation： PENG Kai, LI Hua, OUYANG Mei. A case of early onset epileptic encephalopathy caused by mutation of PIGA gene . Journal of Epilepsy, 2018, 4(4): 314-318. doi: 10.7507/2096-0247.20180051 Copy

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2.	Nieh SE, Sherr EH. Epileptic encephalopathies: New genes and new pathways. Neurotherapeutics, 2014, 11(4): 796-806.
3.	Zhang Q, Li J, Zhao Y, Bao X, et al. Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy. Clin Genet, 2017, 91(5): 717-724.
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7.	欧阳梅, 李花, 胡湘蜀, 等. DEPDC5基因突变的遗传性局灶性癫痫的临床研究. 癫痫杂志, 2018, 4(3): 192-200.
8.	Martin HC, Kim GE, Pagnamenta AT, et al. Clinical whole-ge-nome sequencing in severe early- onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet, 2014, 23(12): 3200-3211.
9.	Almeida AM, Murakami Y, Layton DM, et al. Hypomor-phic promoter mutation in PIGM causes inherited glyco-sylphosphatidylinositol deficiency. Nat Med, 2006, 12(7): 846-851.
10.	Hansen L, Tawamie H, Murakami Y, et al. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet, 2013, 92(4): 575-583.
11.	Johnston JJ, Gropman AL, Sapp JC, et al. The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet, 2012, 90(2): 295-300.
12.	Krawitz PM, Murakami Y, Hecht J, et al. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway,cause hyperphosphatasia with mental retardation. Am J Hum Genet, 2012, 91(1): 146-151.
13.	Kvarnung M, Nilsson D, Lindstrand A, et al. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet, 2013, 50(8): 521-528.
14.	Maydan G, Noyman I, Har-Zahav A, et al. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. J Med Genet, 2011, 48(6): 383-389.
15.	Ng BG, Hackmann K, Jones MA, et al. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet, 2012, 90(4): 685-688.
16.	Chiyonobu T, Inoue N, Morimoto M, et al. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. J Med Genet, 2014, 51(3): 203-207.
17.	Joshi C, Kolbe DL, Mansilla MA, et al. Ketogenic diet- A novel treatment for early epileptic encephalopathy due to PIGA deficiency. Brain Dev, 2016, 38(9): 848-851.

1. 中华医学会. 临床诊疗指南. 癫痫病分册. 北京: 人民卫生出版社, 2007.
2. Nieh SE, Sherr EH. Epileptic encephalopathies: New genes and new pathways. Neurotherapeutics, 2014, 11(4): 796-806.
3. Zhang Q, Li J, Zhao Y, Bao X, et al. Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy. Clin Genet, 2017, 91(5): 717-724.
4. Glass HC, Kan J, Bonifacio SL, et al. Neonatal seizures: Treatment practices among term and preterm infants. Pediatr Neurol, 2012, 46(2): 111-115.
5. Dulac O. Epileptic encephalopathy. Epilepsia, 2001, 42(Suppl 3): 23-26.
6. 王学峰, 肖波, 孙红斌. 难治性癫痫. 上海: 上海科学技术出版社, 2002: 51-131.
7. 欧阳梅, 李花, 胡湘蜀, 等. DEPDC5基因突变的遗传性局灶性癫痫的临床研究. 癫痫杂志, 2018, 4(3): 192-200.
8. Martin HC, Kim GE, Pagnamenta AT, et al. Clinical whole-ge-nome sequencing in severe early- onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet, 2014, 23(12): 3200-3211.
9. Almeida AM, Murakami Y, Layton DM, et al. Hypomor-phic promoter mutation in PIGM causes inherited glyco-sylphosphatidylinositol deficiency. Nat Med, 2006, 12(7): 846-851.
10. Hansen L, Tawamie H, Murakami Y, et al. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet, 2013, 92(4): 575-583.
11. Johnston JJ, Gropman AL, Sapp JC, et al. The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet, 2012, 90(2): 295-300.
12. Krawitz PM, Murakami Y, Hecht J, et al. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway,cause hyperphosphatasia with mental retardation. Am J Hum Genet, 2012, 91(1): 146-151.
13. Kvarnung M, Nilsson D, Lindstrand A, et al. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet, 2013, 50(8): 521-528.
14. Maydan G, Noyman I, Har-Zahav A, et al. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. J Med Genet, 2011, 48(6): 383-389.
15. Ng BG, Hackmann K, Jones MA, et al. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet, 2012, 90(4): 685-688.
16. Chiyonobu T, Inoue N, Morimoto M, et al. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. J Med Genet, 2014, 51(3): 203-207.
17. Joshi C, Kolbe DL, Mansilla MA, et al. Ketogenic diet- A novel treatment for early epileptic encephalopathy due to PIGA deficiency. Brain Dev, 2016, 38(9): 848-851.

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