Journal of Clinical Pediatrics ›› 2024, Vol. 42 ›› Issue (2): 127-132.doi: 10.12372/jcp.2024.22e1145
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LI Xiaoli, ZHANG Xiaoli(), LI Xiao, HAN Rui, XU Dan, GAN Ling, JIA Tianming
Received:
2022-08-22
Published:
2024-02-15
Online:
2024-02-02
LI Xiaoli, ZHANG Xiaoli, LI Xiao, HAN Rui, XU Dan, GAN Ling, JIA Tianming. Clinical phenotypes and gene mutations analysis of children with STXBP1 gene-related encephalopathy[J].Journal of Clinical Pediatrics, 2024, 42(2): 127-132.
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患儿 | 性别 | 起病年龄 | 发作类型 | 脑电图 | 头像影像 | 抗癫痫治疗 | 治疗 效果 | 发育情况 (随访) | 其他 |
---|---|---|---|---|---|---|---|---|---|
例1 | 女 | 生后3 d | 局灶/痉挛 强直阵挛 | 多灶放电 高度失律 | 无异常 | PB+LEV+TPM+ MP+生酮 | 无效 | 重度落后 1岁半死亡 | ? |
例2 | 女 | 4月龄 | 局灶/痉挛 | 多灶放电 高度失律 | 髓鞘化 落后 | VPA+LEV+CZP +TPM+丙球 | 部分 有效 | 7岁 重度落后 孤独症 | 癫痫及智力 低下家族史 |
例3 | 男 | 生后20 d | 痉挛 强直痉挛 | 爆发抑制 高度失律 | 额颞部蛛网膜下隙增宽 | PB+LEV+MP+ VGB+丙球+TPM+生酮 | 无效 | 4岁 重度落后 | ? |
例4 | 女 | 9月龄 | 局灶 | 背景慢 广泛多量 混合慢波 | 无异常 | LEV | 完全 缓解 | 3岁半 轻度落后 | 抽搐前存在 发育落后 |
例5 | 女 | 生后9 d | 局灶/痉挛 | 中央、顶、颞区尖慢波、棘慢波 | 额颞部蛛网膜下隙增宽 | PB+TPM+LEV+ VPA+CZP | 无效 | 2岁8月 重度落后 | 癫痫家族史 |
例6 | 男 | 1个半月 | 强直阵挛 痉挛 | 高度失律 | 无异常 | VPA+LEV+ MP+TPM | 部分 有效 | 3岁9月 重度落后 | 听力障碍 视觉通路异常 |
例7 | 男 | 1岁半 | 局灶/痉挛 | 背景慢 高度失律 | 无异常 | OXC+MP+LEV+ VPA+LTG | 完全 缓解 | 8岁半 重度落后 | 肌张力障碍 |
例8 | 女 | 2个月8 d | 局灶/痉挛 强直阵挛 | 背景慢 高度失律 | 无异常 | VPA+TPM+LEV VGB+ LTG+CZP+MP | 完全 缓解 | 3岁8月 轻度落后 孤独症 | ? |
例9 | 女 | 3月龄 | 无发作 | 背景慢 | 髓鞘化落后 | ? | ? | 3岁8月 重度落后 孤独症 | 面容疑似歌 舞伎综合征 |
例10 | 男 | 1个月21 d | 强直痉挛 痉挛 | 爆发抑制 高度失律 | 无异常 | PB+VPA+LEV +MP+TPM | 无效 | 重度落后 2岁时死亡 | 二胎羊水 穿刺无异常, 现3岁 |
例11 | 女 | 8月龄 | 局灶不典型失神 | 背景慢 多灶放电 | 无异常 | LEV+TPM CZP+中药 | 显著 有效 | 10岁 重度落后 孤独症 | ? |
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患儿 | 突变位点 | 氨基酸改变 | 突变类型 | ACMG | HGMD是否收录 |
---|---|---|---|---|---|
例1 | c.1543dupG | p.A514fs | 移码 | p(PVS1+PS2+PM2) | 无 |
例2 | c.1651C>T | p.Arg551Cys | 错义 | P(PS2+PM1+PM2+PP3+PP5) | 有 |
例3 | c.875G>T | p.Arg292Leu | 错义 | LP(PS2+PM2_supporting+PP2+PP3+PP4) | 有 |
例4 | 6-17号外显子 | 缺失 | LP(PVS1+ PM2_supporting) | 无 | |
例5 | c.133_135del | p.C45del | 缺失 | LP(PM2+PM4+PM6) | 无 |
例6 | c.17T>G | p.Leu6Arg | 错义 | LP(PM2+PM5+PP3+PS2) | 有 |
例7 | c.1694 T>A | p.Val565Glu | 错义 | LP(PMI+PM6+PM2_supporting+PP2+PP3) | 无 |
例8 | c.429+1G>C | 剪切 | P(PVS1+PS2+PM2+PP3) | 无 | |
例9 | c.1115T>G | p.L372R | 错义 | LP(PS2+PM2_Supporting+pp2+pp3) | 无 |
例10 | c.842_843insGGACGACGGCCTGTGGATAGCACT C.855C>G | p.282_283insAspGlyLeuTrpIleAlaLeuAsp p.Asp285Glu | 错义 | LP(PS2+PM2_supporting+PM4+PP4) LP(PS2+PM2_supporting+PP2+PP4) | 无 |
例11 | c.734A>G | p.His245Arg | 错义 | P(PS1+PM1+PM2+PP3+PP5) | 有 |
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