Kv7.2 (KCNQ2) channel dysfunctions cause a rare form of neonatal and infantile epileptic and developmental encephalopathy (MIM 613720).¹ Unlike early clinical features and the epilepsy phenotype of KCNQ2 encephalopathy, data about the long-term developmental outcome are lacking. We followed up for over 3 decades a girl with this disease.

中文翻译：

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具有Rett样特征的KCNQ2脑病：成年后的随访

Kv7.2（KCNQ2）通道功能异常会导致罕见的新生儿和婴儿癫痫及发展性脑病（MIM 613720）。¹与早期的临床特征和KCNQ2脑病的癫痫表型不同，缺乏长期发展结局的数据。我们追踪了一个患有这种疾病的女孩超过3十年。