Approximately 70% epilepsy may be associated with genetic etiology. To date, more than 2 900 genes related to epilepsy have been reported, and genotype-phenotype association in epilepsy has received increasing attention. Explaining how mutations in the same gene can lead to different diseases or phenotypes remains challenging. Sub-molecular mechanisms, including functional structural domains, amino acid substitutions, isoforms, and monoallelic/biallelic mutations, provide new perspectives for deciphering genotype-phenotype association in epilepsy. This review summarizes the role of sub-molecular mechanisms in genotype-phenotype association in epilepsy, to provide new strategies for clinical diagnosis and precise treatment of epilepsy.

Approximately 70% epilepsy may be associated with genetic etiology. To date, more than 2 900 genes related to epilepsy have been reported, and genotype-phenotype association in epilepsy has received increasing attention. Explaining how mutations in the same gene can lead to different diseases or phenotypes remains challenging. Sub-molecular mechanisms, including functional structural domains, amino acid substitutions, isoforms, and monoallelic/biallelic mutations, provide new perspectives for deciphering genotype-phenotype association in epilepsy. This review summarizes the role of sub-molecular mechanisms in genotype-phenotype association in epilepsy, to provide new strategies for clinical diagnosis and precise treatment of epilepsy.

Objective To understand the neonatal ABO type positive and reverse typing consistent rate and to improve the accu-racy of the methods of neonatal blood.Methods The traditional tube method was used to detect the local neonatal ABO blood.The method of micro gel cards,improved tube method,enhancer and traditional tube method,paper,micro-plate,polybrene method to de-tect anti A,anti B,anti D titer,and neonatal blood detection comparator.Results Neonatal ABO positive and negative stereo types compliance rate was 83% (913/1 100);Detecting 15 copies of anti A,B,D titer,the highest sensitivity was improved intensifier tube method and the worst is the method of paper.The method of neonatal specimens was with the similar results.Conclusion ABO positive and negative stereo types should be increased by plasma (serum)levels and extending the incubation time,or using theen-hancerof this study,thereby improving the accuracy of the newborn blood testing.

Objective To explore the incidence rate and related factors of high intraocular pressure after vitro-retinal surgery for patients with diabetic retinopathy(DRP). Methods The 986 patients(1 326 eyes) with DRP arranged vitro-retinal surgery were studied. The inci-dence rate of intraocular pressure was analyzed between different types,grades,complicated with macular detachment,filled with silicone oil/C3F8,total/supplementary retina photo-coagulation and crystalline lens excision. Results The incidence rate of high intraocular pressure was 27. 8%(368/1 326). The incidence rate of high intraocular pressure of proliferative DRP (34. 0%) was obviously higher than non-pro-liferative DRP (17. 2%)(χ2 =30. 648,P=0. 000),and higher in DRP D grade than B grade(34. 1%,20. 8%)(χ2=8. 834,P=0. 003). The incidence rate of high intraocular pressure of proliferative DRP (34. 0%) was obviously higher in patients complicated with macular de-tachment(30. 4%,22. 7%)(χ2 =8. 834,P=0. 0030). The incidence rate of patients filled with silicone oil/C3F8(39. 1%,24. 0%) (χ2 =28. 088,P=0. 000),total/supplementary retina photo-coagulation(32. 8%,16. 8%) (χ2 =21. 159,P=0. 000),with/without crystal-line lens excision (40. 5%,25. 9%)(χ2=15. 532,P=0. 0001)was different obviously. Conclusion There is a high incidence rate and re-lated factors of high intraocular pressure after vitro-retinal surgery for patients with diabetic retinopathy,and it is related to different DRP types,grades,complicated with macular detachment,filled with silicone oil/C3F8,total/supplementary retina photo-coagulation,crystalline lens excision.