参考文献/References:
[1] Symonds JD,McTague A.Epilepsy and developmental disorders:next generation sequencing in the clinic[J].Eur J Paediatr Neurol,2020,24:15-23.
[2] Lindy AS,Stosser MB,Butler E,et al.Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders[J].Epilepsia,2018,59(5):1062-1071.
[3] Symonds JD,Zuberi SM,Stewart K,et al.Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort[J].Brain,2019,142(8):2303-2318.
[4] Chen J,Tao Q,Fan L,et al.Pyridoxine-responsive KCNQ2 epileptic encephalopathy:additional cases and literature review[J].Mol Genet Genomic Med,2022,10(10):e2024.
[5] Goto A,Ishii A,Shibata MM,et al.Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy[J].Epilepsia,2019,60(9):1870-1880.
[6] 屈晓旋,谢涵,姜玉武.KCNQ2基因相关癫痫:一种谱系疾病[J].中国医师杂志,2017,19(8):1134-1138.
[7] Saez-Matia A,Ibarluzea MG,M-Alicante S,et al.MLe-KCNQ2:an artificial intelligence model for the prognosis of missense KCNQ2 gene variants[J].Int J Mol Sci,2024,25(5):2910.
[8] Xiong J,Chen SM,Chen BY,et al.A novel KCNQ2 missense variant in non-syndromic intellectual disability causes mild gain-of-function of Kv7.2 Channel[J].Clin Chim Acta,2022,530:74-80.
[9] Zuberi SM,Wirrell E,Yozawitz E,et al.ILAE classification and definition of epilepsy syndromes with onset in neonates and infants:position statement by the ILAE task force on nosology and definitions[J].Epilepsia,2022,63(6):1349-1397.
[10] Specchio N,Curatolo P.Developmental and epileptic encephalopathies: what we do and do not know[J].Brain,2021,144(1):32-43.
[11] Burgess R,Wang SY,McTague A,et al.The genetic landscape of epilepsy of infancy with migrating focal seizures[J].Ann Neurol,2019,86(6):821-831.
[12] Kawano O,Saito T,Sumitomo N,et al.Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality[J].Brain Dev,2023,45(4):231-236.
[13] Nappi P,Miceli F,Soldovieri MV,et al.Epileptic channelopathies caused by neuronal Kv7(KCNQ)channel dysfunction[J].Pflügers Archiv - European Journal of Physiology,2020,472(7):881-898.
[14] 赵金华,汤继宏,肖潇,等.良性家族性婴儿癫痫1例及文献复习[J].重庆医学,2022,51(7):1256-1258.
[15] Cossu A,Santos JL,Galati G,et al.PRRT2 benign familial infantile seizures(BFIS)with atypical evolution to encephalopathy related to status epilepticus during sleep(ESES)[J].Neurological Sciences,2023,44(6):2173-2176.
[16] Zhao QL,Liu ZW,Hu Y,et al.Different experiences of two PRRT2-associated self-limited familial infantile epilepsy[J].Acta Neurol Belg,2020,120(4):1025-1028.
[17] Gu Y,Mei DQ,Wang XN,et al.Clinical and genetic analysis of benign familial infantile epilepsy caused by PRRT2 gene variant[J].Front Neurol,2023,14:1135044.
[18] 林欢,蒋莉.KCNT1基因变异相关癫痫及其治疗的研究进展[J].癫痫杂志,2022,8(3):251-255.
[19] Fang ZX,Xie LL,Yan LS,et al.Clinical and genetic characteristics of epilepsy of infancy with migrating focal seizures in Chinese children[J].Epilepsy Res,2021,174:106669.
[20] 许艳,胡兰,周也群,等.KCNQ2基因突变致婴儿癫痫伴游走性局灶性发作二例[J].中华新生儿科杂志,2020,35(4):306-307.
[21] Claes LRF,Ceulemans B,Audenaert D,et al.De novo KCNQ2 mutations in patients with benign neonatal seizures[J].Neurology,2004,63(11):2155-2158.
[22] Freibauer A,Jones K.KCNQ2 mutation in an infant with encephalopathy of infancy with migrating focal seizures[J].Epileptic Disord,2018,20(6):541-544.
[23] Spagnoli C,Salerno GG,Iodice A,et al.KCNQ2 encephalopathy:a case due to a de novo deletion[J].Brain Dev,2018,40(1):65-68.
[24] Moon JU,Cho KO.Current pharmacologic strategies for treatment of intractable epilepsy in children[J].Int Neurourol J,2021,25(Suppl 1):S8-18.
[25] Snyder HE,Jain P,RamachandranNair R,et al.Genetic advancements in infantile epileptic spasms syndrome and opportunities for precision medicine[J].Genes(Basel),2024,15(3):266.
[26] Symonds JD,Elliott KS,Shetty J,et al.Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants[J].Brain,2021,144(9):2879-2891.
[27] Specchio N,Wirrell EC,Scheffer IE,et al.International league against epilepsy classification and definition of epilepsy syndromes with onset in childhood: position paper by the ILAE task force on nosology and definitions[J].Epilepsia,2022,63(6):1398-1442.
[28] 张瑾,戎萍.婴儿痉挛症国内外药物治疗的现状与研究进展[J].中国实用神经疾病杂志,2022,25(9):1184-1188.
[29] Michaud JL,Lachance M,Hamdan FF,et al.The genetic landscape of infantile spasms[J].Hum Mol Genet,2014,23(18):4846-4858.
[30] Peng P,Kessi M,Mao LL,et al.Etiologic classification of 541 infantile spasms cases: a cohort study[J].Front Pediatr,2022,10:774828.
[31] Choi HS,Ko A,Kim SH,et al.Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome[J].Epilepsia,2021,62(7):1656-1664.
[32] Liu LY,Lu Q,Wang QH,et al.Diagnostic yield of a multi-strategy genetic testing procedure in a nationwide cohort of 728 patients with infantile spasms in China[J].Seizure,2022,103:51-57.
[33] Duc NM,Thu NTM,Bui CB,et al.Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children:two novel variants detected by next-generation sequencing[J].Epilepsy Res,2023,190:107094.
[34] Nagarajan B,Gowda VK,Yoganathan S,et al.Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India[J].Epilepsia Open,2023,8(4):1383-1404.
[35] Demarest S,Calhoun J,Eschbach K,et al.Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms[J].Dev Med Child Neurol,2022,64(5):633-640.
[36] Ko A,Youn SE,Kim SH,et al.Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy[J].Epilepsy Res,2018,141:48-55.
[37] Liu HF,Yuan TY,Yang JW,et al.A novel de novo heterozygous variant of the KCNQ2 gene:contribution to early-onset epileptic encephalopathy in a female infant[J].Mol Med Rep,2022,26(3):1-9.
[38] Orhan G,Bock M,Schepers D,et al.Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy[J].Ann Neurol,2014,75(3):382-394.
[39] Kim HJ,Yang D,Kim SH,et al.Clinical characteristics of KCNQ2 encephalopathy[J].Brain Dev,2021,43(2):244-250.
[40] Mehta P,Srivastava S,Choudhary BS,et al.Probing voltage sensing domain of KCNQ2 channel as a potential target to combat epilepsy: a comparative study[J].J Recept Signal Transduct Res,2017,37(6):578-589.
[41] Falsaperla R,Marino SD,Salomone G,et al.Impressive efficacy of the ketogenic diet in a KCNQ2 encephalopathy infant: a case report and exhaustive literature review[J].Transl Pediatr,2023,12(2):292-300.
[42] 陈俊,袁梦,李杨,等.KCNQ2基因变异相关吡哆醛反应性癫痫性脑病2例报告并文献复习[J].临床儿科杂志,2021,39(8):574-578.
[43] Chow CK,Luk HM,Wong SN.KCNQ2 encephalopathy and responsiveness to pyridoxal-5'-phosphate[J].J Pediatr Genet,2023,12(1):90-94.
[44] Klotz KA,Lemke JR,Korinthenberg R,et al.Vitamin B6-responsive epilepsy due to a novel KCNQ2 mutation[J].Neuropediatrics,2017,48(3):199-204.
[45] Kuersten M,Tacke M,Gerstl L,et al.Antiepileptic therapy approaches in KCNQ2 related epilepsy:a systematic review[J].Eur J Med Genet,2020,63(1):103628.