基因产物：B-Raf原癌基因，丝氨酸/苏氨酸激酶。

蛋白功能：属于RAF丝氨酸/苏氨酸蛋白激酶家族成员，属于RAS-MAPK信号通路的关键组成部分，可以磷酸化 MAP2K1 ，在细胞增殖、分化、存活、迁移及代谢等方面均有重要作用[1-2]。

相关疾病：1、心-面-皮肤综合征（AD）（一些可有发育落后和癫痫发作，部分可表现为 婴儿癫痫性痉挛综合征 ）[3-4]；2、LEOPARD综合征（AD）[5]；3、Noonan综合征（AD）[6]。

相关临床研究：PubMed数据库（PMID:  37827855 (Am J Med Genet A. 2024) ）

用药提醒：主要根据不同的 癫痫综合征 来选择用药，部分可表现为难治性癫痫发作，一些患儿对 奥卡西平 有较好疗效[10]。此外也有使用BRAF抑制剂、MEK抑制剂治疗该基因变异所致癫痫的报道[7-8]，此外如果影像学有较明确提示结构性病变（如皮质发育不良、低级别胶质瘤）且电-临床-影像能匹配的情况下，对于该基因变异所致的药物难治性癫痫，手术也可能是一种选择方法[9]（个人观点，仅供参考）。


参考文献

1. The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway. Endocr Rev. 2018 Oct 1;39(5):676-700.
2. Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. J Clin Invest. 2018 Apr 2;128(4):1496-1508.
3. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clin Genet. 2008 Jan;73(1):62-70.
4. Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):501-509.
5. Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence. Eur J Med Genet. 2009 Sep-Oct;52(5):337-40.
6. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat. 2009 Apr;30(4):695-702.
7. Seizure control in tumor-associated epilepsy secondary to BRAF inhibition. Pediatr Blood Cancer. 2023 Apr;70(4):e30073.
8. Treatment of Refractory Epilepsy With MEK Inhibitor in Patients With RASopathy. Pediatr Neurol. 2023 Nov:148:148-151.
9. BRAF V600E Mutation in Ganglioglioma: Impact on Epileptogenicity and Implications for Surgical Strategy. Eur J Neurol. 2025 Apr;32(4):e70136.
10. Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication. Am J Med Genet A. 2024 Feb;194(2):301-310.