| 1. |
Sanger F, Nicklen S, Coulson AR.DNA sequencing with chain-terminating inhibitors.Proc Natl Acad Sci USA, 1977, 74(12): 5463-5467.
|
| 2. |
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.Genet Med, 2015, 17(5): 405-424.
|
| 3. |
席志芹, 王学峰, 吕洋, 等.伴听觉症状的家族性颞叶外侧癫痫的临床特点及LGI1基因突变检测.中华医学杂志, 2009, 89(3): 195-197.
|
| 4. |
Lesca G, Rudolf G, Bruneau N, et al. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.Nat Genet, 2013, 45(9): 1061-1066.
|
| 5. |
Chen Y, Lu J, Pan H, et al. Association between genetic variation of CACNA1H and childhood absence epilepsy.Ann Neurol, 2003, 54(2): 239-243.
|
| 6. |
Heron SE, Phillips HA, Mulley JC, et al. Genetic variation of CACNA1H in idiopathic generalized epilepsy.Ann Neurol, 2004, 55(4): 595-596.
|
| 7. |
Yang Y, Wang Y, Li S, et al. Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.J Med Genet, 2004, 41(3): 171-174.
|
| 8. |
Singh NA, Pappas C, Dahle EJ, et al. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet Syndrome.PLoS Genet, 2009, 5(9): e1000649.
|
| 9. |
Amendola LM, Jarvik GP, Leo MC, et al. Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium.Am J Hum Genet, 2016, 99(1): 247.
|
