1. |
Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsis: position paper of the ILAE commission for classification and terminology. Epilepsia, 2017, 58(4): 512-521.
|
2. |
苏艳, 赵世刚, 杨蕴天, 等. 癫痫病因及发病机制. 脑与神经疾病杂志, 2016, 24(4): 262-264.
|
3. |
Thomas RH, Berkovic SF. The hidden genetics of epilepsy-aclinically important new paradigm. Nat Rev Neurol, 2014, 10(5): 283-292.
|
4. |
Olson HE, Kelly M, LaCoursiere CM, et al. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol, 2017, 81(3): 419-429.
|
5. |
Lim BC, Hwang H, Kim H, et al. Epilepsy phenotype associated with a chromosome 2q24. 3 deletion involving SCN1A: migrating partial seizures of infancy or atypical Dravet syndrome? Epilepsy Res, 2015, 109: 34-39.
|
6. |
Wolff M, Johannesen KM, UBS H, et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain, 2017, 140(5): 1316-1336.
|
7. |
Wang J, Gao H, Bao X, et al. SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. BMC Med Genet, 2017, 18(1): 104.
|
8. |
Catterall WA, Kalume F, Oakley JC. NaV1. 1 channels and epilepsy. J Physiol, 2010, 588(11): 1849-1859.
|
9. |
田小娟, 张月华, 杨小玲, 等. 547 例 Dravet 综合征患儿 SCN1A基因突变与遗传特点研究. 癫痫杂志, 2016, 2(1): 3-8.
|
10. |
苗圃, 王健达, 郭雨帆等. SCN2A 基因突变导致大田原综合征 2 例报告及文献复习. 临床儿科杂志, 2019, 37(3): 223-227.
|
11. |
Nakamura K, Kato M, Osaka H, et al. Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology, 2013, 81(11): 992-998.
|
12. |
Liu Y, Schubert J, Sonnenberg L, et al. Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability. Brain, 2019, 142: 376-390.
|
13. |
Wagnon JL, Mencacci NE, Barker BS, et al. Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. Hum Mutat, 2018, 39: 965-969.
|
14. |
Wengert ER, Tronhjem CE, Wagnon JL, et al. Biallelic inherited SCN8A variants, a rare cause of SCN8A‐related developmental and epileptic encephalopat. Epilepsia, 2019, 60(1): 1-9.
|
15. |
Pons L, Lesca G, Sanlaville D, et al. Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy. Epileptic Disord, 2018, 20(4): 289-294.
|
16. |
Kearney JA. KCNA2-related epileptic encephalopathy. Pediatr Neurol Briefs, 2015, 29(4): 27.
|
17. |
龚潘, 薛姣, 焦莶如, 等. KCNA2基因相关发育及癫痫性脑病患儿的基因型及表型特点. 中华儿科杂志, 2020, 58(1): 35-40.
|
18. |
屈晓旋, 谢涵, 姜玉武. KCNQ2 基因相关癫痫: 一种谱系疾病. 中国医师杂志, 2017, 19(8): 1134-1138.
|
19. |
Kato M, Yamagata T, Kubota M, et al. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia, 2013, 54(7): 1282-1287.
|
20. |
Weckhuysen S, Mandelstam S, Suls A, et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephaopathy. Ann Neurol, 2012, 71(1): 15-25.
|
21. |
Weckhuysen S, lvanovic V, Hendrickx R, et al. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17patients. Neurology, 2013, 81(19): 1697-1703.
|
22. |
Lim CX, Ricos MG, Dibbens LM, et al. KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. J Med Genet, 2016, 53(4): 217-225.
|
23. |
郎悦, 王小峰, 尹剑, 等. 离子通道与癫痫遗传学研究进展. 中华神经科杂志, 2018, 51(8): 642-648.
|
24. |
Berdyyeva TK, Frady EP, Nassi JJ, et al. Direct imaging of hippocampal epileptiform calcium motifs following kainic acid administration in freely behaving mice. Front Neurosci, 2016, (10): 53.
|
25. |
Helbig KL, Lauerer RJ, Bahr JC, et al. De novo pathogenic variants in CACNA1E caused developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias. Am J Hum Genet, 2019, 104(3): 562.
|
26. |
Punetha J, Karaca E, Gezdirici A, et al. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. ANNALS of Clinical Translational Neurology, 2019, (5): 1-12.
|
27. |
Jiang X, Praveen K, Nazzareno D, et al. Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathiesin the spectrum of Lennox-Gastaut syndrome. Epilepsia, 2019, (60): 1881-1894.
|
28. |
胡春辉, 杨滢, 马洁卉, 等. CACNA1E基因突变相关发育性癫痫性脑病3例. 中华实用儿科临床杂志, 2020, 35(12): 931-934.
|
29. |
Reinson K, Oiglane-Shlik E, Talvik I, et al. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. Am J Med Genet A, 2016, 170(8): 2173-2176.
|
30. |
Qi Y, Mair N, Kummer KK, et al. Identification of Chloride Channels CLCN3 and CLCN5Mediating the Excitatory Cl- Currents Activated by Sphingosine-1-Phosphate in Sensory Neurons. Front Mol Neurosci, 2018, 11: 33.
|
31. |
贺海兰, 彭镜. 电压门控氯离子通道与癫痫研究进展. 中华实用儿科临床杂志, 2019, 34(24): 1911-1914.
|
32. |
Peng J, Wang Y, He F, et al. Novel West syndrome candidate genes in a Chinese cohort. CNS Neurosci Ther, 2018, 24: (12).1196-1206.
|