参考文献/References:
[1] 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.
[2] Pisano T,Numis AL,Heavin SB,et al.Early and effective treatment of KCNQ2 encephalopathy[J].Epilepsia,2015,56(5):685-691.
[3] 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[J].Genet Med,2015,17(5):405-424.
[4] Hortigüela M,Fernández-Marmiesse A,Cantarín V,et al.Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations[J].J Hum Genet,2017,62(2):185-189.
[5] Rim JH,Kim SH,Hwang IS,et al.Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing[J].BMC Med Genomics,2018,11(1):6.
[6] Bagnall RD,Crompton DE,Petrovski S,et al.Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy[J].Ann Neurol,2016,79(4):522-534.
[7] Milh M,Lacoste C,Cacciagli P,et al.Variable clinical expression in patients with mosaicism for KCNQ2 mutations[J].Am J Med Genet A,2015,167A(10):2314-2318.
[8] Sun D,Liu Y,Cai W,et al.Detection of disease-causing SNVs/indels and CNVs in single test based on whole exome sequencing: a retrospective case study in epileptic encephalopathies[J].Front Pediatr,2021,9:635703.
[9] Fernández-Marmiesse A,Roca I,Díaz-Flores F,et al.Rare variants in 48 genes account for 42% of cases of epilepsy with or without neurodevelopmental delay in 246 pediatric patients[J].Front Neurosci,2019,13:1135.
[10] Kothur K,Holman K,Farnsworth E,et al.Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy[J].Seizure,2018,59:132-140.
[11] Dimassi S,Labalme A,Ville D,et al.Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome[J].Clin Genet,2016,89(2):198-204.
[12] 方红军,冯枚,胡文静,等.10例KCNQ2基因突变相关儿童癫痫临床表型与基因型特征分析[J].临床儿科杂志,2019,37(11):816-819.
[13] Ko A,Jung DE,Kim SH,et al.The efficacy of ketogenic Diet for specific genetic mutation in developmental and epileptic encephalopathy[J].Front Neurol,2018,9:530.
[14] Thompson L,Fecske E,Salim M,et al.Use of the ketogenic diet in the neonatal intensive care unit-safety and tolerability[J].Epilepsia,2017,58(2):e36-e39.
[15] 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.
[16] Lee SB,Kim SH,Kim B,et al.Genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression pattern[J].Epilepsy Res,2020,163:106323.
[17] 胡春辉,孙丹,胡家胜,等.钾离子通道KCNQ2基因突变相关性早发性癫痫脑病2例临床报道[J].中国实用儿科杂志,2019,34(1):56-58.
[18] 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.
[19] Ko A,Kwon HE,Kim HD.Updates on the ketogenic diet therapy for pediatric epilepsy[J].Biomed J,2022,45(1):19-26.
[20] Martin K,Jackson CF,Levy RG,et al.Ketogenic diet and other dietary treatments for epilepsy[J].Cochrane Database Syst Rev,2016,2:CD001903.
[21] Klepper J,Leiendecker B,Bredahl R,et al.Introduction of a ketogenic diet in young infants[J].J Inherit Metab Dis,2002,25(6):449-460.
[22] Nordli DRJ,Kuroda MM,Carroll J,et al.Experience with the ketogenic diet in infants[J].Pediatrics,2001,108(1):129-133.
[23] Kayyali HR,Gustafson M,Myers T,et al.Ketogenic diet efficacy in the treatment of intractable epileptic spasms[J].Pediatr Neurol,2014,50(3):224-227.
[24] Wells J,Swaminathan A,Paseka J,et al.Efficacy and safety of a ketogenic diet in children and adolescents with refractory epilepsy-a review[J].Nutrients,2020,12(6):1809.