Mild phenotype in a patient with developmental and epileptic encephalopathy carrying a novel de novo KCNB1 variant

Neurol Sci. 2021 Oct;42(10):4325-4327. doi: 10.1007/s10072-021-05388-8. Epub 2021 Jun 26.

Authors

Jin-Mei Lu¹, Jian-Fang Zhang¹, Cai-Hong Ji¹, Jing Hu¹, Kang Wang²

Affiliations

¹ Epilepsy Center, Department of Neurology, the First Affiliated Hospital, School of Medicine, Zhejiang University, No. 79 Qingchun Road, Hangzhou, 310009, China.
² Epilepsy Center, Department of Neurology, the First Affiliated Hospital, School of Medicine, Zhejiang University, No. 79 Qingchun Road, Hangzhou, 310009, China. fcwangk1@zju.edu.cn.

PMID: 34176003
DOI: 10.1007/s10072-021-05388-8

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Epilepsy* / complications
Epilepsy* / genetics
Epilepsy, Generalized* / complications
Epilepsy, Generalized* / genetics
Humans
Mutation / genetics
Phenotype
Shab Potassium Channels / genetics

Substances

KCNB1 protein, human
Shab Potassium Channels

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