[1] Berg RA,Aleck KA,Kaplan AM.Familial porencephaly.Arch Neurol,1983,40:567-569. [2] 许愿愿,段袁园,童文佳,等.COL4A1基因突变相关儿童脑病的特征分析:附3例病例报告.立体定向和功能性神经外科杂志,2020,33:99-103. [3] 杨莹,陈丽卿,刘艳.儿童COL4A1基因变异相关脑病1例报道并文献复习.卒中与神经疾病,2022,29:257-261. [4] 张鹏,王秋红,邹丽萍,等.COL4A1/COL4A2基因变异相关婴儿痉挛症的临床特点及预后.解放军医学院学报,2021,42:601-607. [5] 单丽丹,彭镜,肖慧,等.1例遗传性血管病、肾病、动脉瘤和肌肉痉挛综合征幼儿的临床特征及COL4A1基因型研究.中国当代儿科杂志,2019,21:754-760. [6] Itai T,Miyatake S,Taguri M,et al.Prenatal clinical manifestations in individuals with COL4A1/2 variants.J Med Genet,2021,58:505-513. [7] Richards S,Aziz N,Bale S,et al.Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genetics in Medicine Official Journal of the American College of Medical Genetics,2015,17:405-424. [8] Gould DB,Phalan FC,Breedveld GJ,et al.Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.Science,2005,308:1167-1171. [9] Gasparini S,Qualtieri A,Ferlazzo E,et al.Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation.Neurol Sci,2016,37:459-463. [10] Itai T,Miyatake S,Taguri M,et al.Prenatal clinical manifestations in individuals with COL4A1/2 variants.J Med Genet,2021,58:505-513. [11] Mao M,Alavi MV,Labelle-Dumais C,et al.Type IV Collagens and Basement Membrane Diseases:Cell Biology and Pathogenic Mechanisms.Curr Top Membr,2015,76:61-116. [12] Jeanne M,Gould DB.Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.Matrix Biology,2017,57-58:29-44. [13] Shoulders MD,Raines RT.Collagen structure and stability.Annu Rev Biochem,2009,78:929-958. [14] Shannon P,Hum C,Parks T,et al.Brain and Placental Pathology in Fetal COL4A1 Related Disease.Pediatr Dev Pathol,2021,24:175-186. [15] Aguglia U,Gambardella A,Breedveld GJ,et al.Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly.Neurology,2004,62:1613-1615. [16] Teunissen M,Kamsteeg EJ,Sallevelt S,et al.Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly:A Case Report.Neurol Genet,2021,7:e564. [17] Sato T,Kato M,Moriyama K,et al.A case oftubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.Brain Dev,2018,40:819-823. [18] Hino-Fukuyo N,Kikuchi A,Iwasaki M,et al.Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation.Brain Dev,2017,39:337-340.