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基因突变信息：c.1734G>A(p.Met578Ile)  

KCNQ2病友社：病例1例

突变来源：新生突变


PolyPhen-2 report for O43526 M578I
Protein Acc：O43526  Position：578 AA1：M AA2：I
Description：Canonical; RecName: Full=Potassium voltage-gated channel subfamily KQT member 2; AltName: Full=KQT-like 2; AltName: Full=Neuroblastoma-specific potassium channel subunit alpha KvLQT2; AltName: Full=Voltage-gated potassium channel subunit Kv7.2; Length: 872 
Results Prediction/Confidence

This mutation is predicted to be PROBABLY DAMAGING with a score of 0.995 (sensitivity: 0.68; specificity: 0.97)

Confidence

This mutation is predicted to be PROBABLY DAMAGING with a score of 0.989 (sensitivity: 0.52; specificity: 0.95)

Confidence

KCNQ2突变数据库资料：

预后评级为：Pathogenic,likely epileptic encephalopathy(EE)


2018年3月随访：发育里程碑落后。

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