参考文献/References:
[1] 李承玉,徐连萍,杨华俊,等.中国汉族常染色体显性遗传颞叶外侧癫痫家系的临床特征和基因突变筛查[J].中国神经精神疾病杂志,2018,44(9):513-519.
[2] Staley K.Molecular mechanisms of epilepsy[J].Nat Neurosci,2015,18(3):367-372.
[3] 钱萍,杨小玲,许小菁,等.癫痫失语疾病谱GRIN2A基因突变研究[J].中华医学遗传学杂志,2018,35(3):314-318.
[4] 冷明月.额叶癫痫相关基因的研究进展[J].国际儿科学杂志,2018,45(12):929-932.
[5] Heron SE,Smith KR,Bahlo M,et al.Missense mutations in the sodium-gated Potassium Channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy[J].Nat Genet,2012,44(11):1188-1190.
[6] 张欣,林卫红.常染色体显性遗传夜间额叶癫痫的基因学研究现状[J].癫痫杂志,2019,5(2):116-119.
[7] 丛璐璐,赵宗茂.2017年国际抗癫痫联盟癫痫发作和癫痫新分类的简要解读[J].河北医科大学学报,2018,39(9):993-995.
[8] Zeitz C,Kloeckener-Gruissem B,Forster U,et al.Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness[J].Am J Hum Genet,2006,79(4):657-667.
[9] Khan AO,Alrashed M,Alkuraya FS.Clinical characterisation of the CABP4-related retinal phenotype[J].British Journal of Ophthalmology,2013,97(3):262-265.
[10] Wang MY,Liu XZ,Wang J,et al.A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in a Chinese patient with non-familial nocturnal frontal lobe epilepsy[J].Epilepsy Res,2014,108(10):1927-1931.
[11] Dan HD,Song XS,Li JZ,et al.Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness[J].Ophthalmic Genet,2017,38(3):206-210.
[12] Zeitz C,Kloeckener-Gruissem B,Forster U,et al.Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness[J].Am J Hum Genet,2006,79(4):657-667.
[13] Feng,Wei,Li LM,et al.Ion Channel genes and epilepsy:functional alteration,pathogenic potential,and mechanism of epilepsy[J].Neurosci Bull,2017,33(4):455-477.
[14] Chen ZH,Wang C,Zhuo MQ,et al.Exome sequencing identified a novel missense mutation c.464G>A(p.G155D)in Ca2+-binding protein 4(CABP4)in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy[J].Oncotarget,2017,8(45):78940-78947.
[15] Schatz P,Elsayed ME,Khan AO.Multimodal imaging in CABP4-related retinopathy[J].Ophthalmic Genet,2017,38(5):459-464.
[16] Dan HD,Song XS,Li JZ,et al.Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness[J].Ophthalmic Genet,2017,38(3):206-210.
[17] Littink KW,Van Genderen MM,Collin RW,et al.A novel homozygous nonsense mutation in CABP4 causes congenital Cone-Rod synaptic disorder[J].Invest Ophthalmol Vis Sci,2009,50(5):2344-2350.
[18] 李丹,黄绍平,宋婷婷,等.SCN1A基因突变阳性的Dravet综合征患儿的临床特征分析[J].西安交通大学学报(医学版),2016,37(6):841-845.
[19] 曾琦,张月华,杨小玲,等.良性家族性新生儿癫痫致病基因研究[J].中华实用儿科临床杂志,2018,33(8):602-606.
[20] 赵滢,章清萍,张晓英,等.早发性癫痫脑病男性患儿 ARX 基因突变及其临床特点[J].山东医药,2014(23):13-15, 19.