Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy

Seizure. 2024 Mar:116:159-161. doi: 10.1016/j.seizure.2023.03.007. Epub 2023 Mar 13.

Authors

Yun-Jian Zhang¹, Tian-Shuang Wang¹, Xiao-Mei Zhu¹, Li-Fei Yu¹, Lin-Mei Zhang¹, Yuan-Feng Zhou¹, Yi Wang¹, Shui-Zhen Zhou²

Affiliations

¹ Department of Neurology, National Children's Medical Center, Children's Hospital of Fudan University, Shanghai, China.
² Department of Neurology, National Children's Medical Center, Children's Hospital of Fudan University, Shanghai, China. Electronic address: szzhou@shmu.edu.cn.

PMID: 36934001
DOI: 10.1016/j.seizure.2023.03.007

No abstract available

Keywords: Biallelic; Child; Developmental and epileptic encephalopathy; Genetic testing; KCNQ2; Kv7.2.

MeSH terms

Brain Diseases*
Humans
KCNQ2 Potassium Channel* / genetics
Mutation / genetics
Spasms, Infantile* / genetics

Substances

KCNQ2 Potassium Channel
KCNQ2 protein, human