| 1. |
Nashabat M, Al Qahtani XS, Almakdob S, et al. The landscape of early infantile epileptic encephalopathy in a consanguineous population. Seizure, 2019, 69: 154-172.
|
| 2. |
Torkamani A, Bersell K, Jorge BS, et al. De novo KCNB1 mutations in epileptic encephalopathy. Ann Neurol, 2014, 76(4): 529-540.
|
| 3. |
Fernández-Mari?o AI, Tan XF, Bae C, et al. Inactivation of the Kv2. 1 channel through electromechanical coupling. Nature, 2023, 622(7982): 410-417.
|
| 4. |
Bar C, Kuchenbuch M, Barcia G, et al. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. Epilepsia, 2020, 61(11): 2461-2473.
|
| 5. |
de Kovel CGF, Syrbe S, Brilstra EH, et al. Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. JAMA Neurol, 2017, 74(10): 1228-1236.
|
| 6. |
Kearney JA. When Inhibiting Repetitive Firing is Pro-Epileptic. Epilepsy Curr, 2016, 16(2): 114-115.
|
| 7. |
Marini C, Romoli M, Parrini E, et al. Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. Neurol Genet, 2017, 3(6): e206.
|
| 8. |
曾琦, 楊瑩, 程苗苗, 等. KCNB1基因變異相關發育性癲癇性腦病的臨床特點分析. 中華兒科雜志, 2024, 62(11): 1064-1070.
|
| 9. |
King AN, Manning CF, Trimmer JS. A unique ion channel clustering domain on the axon initial segment of mammalian neurons. J Comp Neurol, 2014, 522(11): 2594-2608.
|
| 10. |
Speca DJ, Ogata G, Mandikian D, et al. Deletion of the Kv2.1 delayed rectifier potassium channel leads to neuronal and behavioral hyperexcitability. Genes Brain Behav, 2014, 13(4): 394-408.
|
| 11. |
Liu PW, Bean BP. Kv2 channel regulation of action potential repolarization and firing patterns in superior cervical ganglion neurons and hippocampal CA1 pyramidal neurons. J Neurosci, 2014, 34(14): 4991-5002.
|
| 12. |
Saitsu H, Akita T, Tohyama J, et al. De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. Sci Rep, 2015, 5: 15199.
|
| 13. |
Samanta D. Epileptic spasm and de novo KCNB1 mutation: if it is not one potassium channel, it is another!. Acta Neurol Belg, 2020, 120(2): 417-420.
|
| 14. |
Forzisi E, Sesti F. Non-conducting functions of ion channels: The case of integrin-ion channel complexes. Channels (Austin), 2022, 16(1): 185-197.
|
| 15. |
Bortolami A, Sesti F. Ion channels in neurodevelopment: lessons from the Integrin-KCNB1 channel complex. Neural Regen Res, 2023, 18(11): 2365-2369.
|
| 16. |
Kang SK, Vanoye CG, Misra SN, et al. Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders. Ann Neurol, 2019, 86(6): 899-912.
|
| 17. |
Yu W, Shin MR, Sesti F. Complexes formed with integrin-α5 and KCNB1 potassium channel wild type or epilepsy-susceptibility variants modulate cellular plasticity via Ras and Akt signaling. FASEB J, 2019, 33(12): 14680-14689.
|
| 18. |
Muir AM, Myers CT, Nguyen NT, et al. Genetic heterogeneity in infantile spasms. Epilepsy Res, 2019, 156: 106181.
|
| 19. |
Bar C, Barcia G, Jennesson M, et al. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Hum Mutat, 2020, 41(1): 69-80.
|
