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KCNQ2-Associated Epilepsy: A Review of Variable Phenotypes and Neurodevelopmental Outcomes

Author(s): Inn-Chi Lee, Jiann-Jou Yang, Shuan-Yow Li


KCNQ2 mutations can cause benign familial neonatal convulsions (BFNC), benign familiar infantile convulsions (BFIC), and neonatal epileptic encephalopathy. KCNQ2-associated seizures usually manifest during the first week of life. Some affected children will have recurrent febrile seizures, benign childhood epilepsy with centrotemporal spikes (BCECTS), or idiopathic generalized epilepsy on follow-up. However, the outcomes in these patients cannot be accurately predicted. We reviewed the phenotypes, and genotypes of the KCNQ2 mutation, pathophysiological mechanisms and drug treatments for KCNQ2-associated epilepsy. We conclude that KCNQ2 mutations can cause various epileptic phenotypes and different neurodevelopmental outcomes in children.

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