[1] |
|
[2] |
Goto A, Ishii A, Shibata M, et al. Characteristics of KCNQ 2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy [J]. Epilepsia, 2019, 60(9): 1870-1880. DOI: 10.1111/epi.16314.
|
[3] |
Piro E, Nardello R, Gennaro E, et al. A novel mutation in KCNQ 3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome [J]. Epileptic Disord, 2019, 21(1): 87-91. DOI: 10.1684/epd.2019.1030.
|
[4] |
|
[5] |
|
[6] |
|
[7] |
|
[8] |
|
[9] |
|
[10] |
|
[11] |
|
[12] |
|
[13] |
|
[14] |
|
[15] |
|
[16] |
|
[17] |
|
[18] |
|
[19] |
于淑杰,包新华,綦莹,等. KCNQ 3、 SCN3A基因变异的全面性癫痫伴热性惊厥附加症家系临床分析(附1例报告)[J]. 中国实用儿科杂志, 2018, 33(11): 924-926. DOI: 10.19538/j.ek2018110626.
|
[20] |
|
[21] |
白敏.KCNQ 2新突变可致早期婴儿型癫痫性脑病[D].温州:温州医科大学,2017:1-44.
|
[22] |
|
[23] |
|
[24] |
|
[25] |
Li H, Li N, Shen L, et al. A novel mutation of KCNQ 3 gene in a Chinese family with benign familial neonatal convulsions [J]. Epilepsy Res, 2008, 79(1): 1-5. DOI: 10.1016/j.eplepsyres.2007.12.005.
|
[26] |
Tang B, Li H, Xia K, et al. A novel mutation in KCNQ 2 gene causes benign familial neonatal convulsions in a Chinese family [J]. J Neurol Sci, 2004, 221(1-2): 31-34. DOI: 10.1016/j.jns.2004.03.001.
|
[27] |
Fang ZX, Zhang M, Xie LL, et al. KCNQ 2 related early-onset epileptic encephalopathies in Chinese children [J]. J Neurol, 2019, 266(9): 2224-2232. DOI: 10.1007/s00415-019-09404-y.
|
[28] |
Duan H, Peng J, Kessi M, et al. De novo KCNQ 2 mutation in one case of epilepsy of infancy with migrating focal seizures that evolved to infantile spasms [J]. Child Neurol Open, 2018, 5: 2329048X18767738. DOI: 10.1177/2329048X18767738.
|
[29] |
Fung CW, Kwong AK, Wong VC. Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy [J]. Epilepsia Open, 2017, 2(2): 236-243. DOI: 10.1002/epi4.12055.
|
[30] |
Zhou X, Ma A, Liu X, et al. Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ 2 [J]. Eur J Pediatr, 2006, 165(10): 691-695. DOI: 10.1007/s00431-006-0157-5.
|
[31] |
Yan Y, Wu J, He D, et al. Epilepsies associated with KCNQ 2 complicated by supraventricular tachycardia due to a de novo mutation in KCNQ 2 [J]. Iran J Pediatr, 2018, 28(6):e74214. DOI: 10.5812/ijp.74214.
|
[32] |
Neu A, Bürger-Büsing J, Danne T, et al. Diagnosis, therapy and follow-up of diabetes mellitus in children and adolescents [J]. Exp Clin Endocrinol Diabetes, 2019, 127(S 01): S39-S72. DOI: 10.1055/a-1018-8963.
|
[33] |
|
[34] |
Cooper EC, Harrington E, Jan YN, et al. M channel KCNQ 2 subunits are localized to key sites for control of neuronal network oscillations and synchronization in mouse brain [J]. J Neurosci, 2001, 21(24): 9529-9540. DOI: 10.1523/JNEUROSCI.21-24-09529.2001.
|
[35] |
|
[36] |
Lehman A, Thouta S, Mancini G, et al. Loss-of-function and gain-of-function mutations in KCNQ 5 cause intellectual disability or epileptic encephalopathy [J]. Am J Hum Genet, 2017, 101(1): 65-74. DOI: 10.1016/j.ajhg.2017.05.016.
|
[37] |
Caraballo RH, Cersósimo RO, Amartino H, et al. Benign familial infantile seizures: further delineation of the syndrome [J]. J Child Neurol, 2002, 17(9): 696-699. DOI: 10.1177/088307380201700909.
|
[38] |
Malafosse A, Beck C, Bellet H, et al. Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene [J]. Ann Neurol, 1994, 35(4): 479-482. DOI: 10.1002/ana.410350417.
|
[39] |
Pereira S, Roll P, Krizova J, et al. Complete loss of the cytoplasmic carboxyl terminus of the KCNQ 2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes[J]. Epilepsia, 2004, 45(4): 384-390. DOI: 10.1111/j.0013-9580.2004.47703.x.
|
[40] |
Schmitt B, Wohlrab G, Sander T, et al. Neonatal seizures with tonic clonic sequences and poor developmental outcome [J]. Epilepsy Res, 2005, 65(3): 161-168. DOI: 10.1016/j.eplepsyres.2005.05.009.
|