Mild Phenotype in a Patient with Developmental and Epileptic Encephalopathy Carrying a Novel De Novo KCNB1 Variant

Overview

Journal Neurol Sci

Specialty Neurology

Date 2021 Jun 27

PMID 34176003

Citations 3

Authors

Jin-Mei Lu

Jian-Fang Zhang

Cai-Hong Ji

Jing Hu

Kang Wang

Affiliations

Soon will be listed here.

Citing Articles

Abnormal cytoskeletal remodeling but normal neuronal excitability in a mouse model of the recurrent developmental and epileptic encephalopathy-susceptibility KCNB1-p.R312H variant.

Bortolami A, Forzisi Kathera-Ibarra E, Balatsky A, Dubey M, Amin R, Venkateswaran S Commun Biol. 2024; 7(1):1713.

PMID: 39738805 PMC: 11685548. DOI: 10.1038/s42003-024-07344-6.

Potassium channel-related epilepsy: Pathogenesis and clinical features.

Zhao T, Wang L, Chen F Epilepsia Open. 2024; 9(3):891-905.

PMID: 38560778 PMC: 11145612. DOI: 10.1002/epi4.12934.

KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure.

Uctepe E, Esen F, Tumer S, Mancilar H, Yesilyurt A Intractable Rare Dis Res. 2022; 11(4):219-221.

PMID: 36457583 PMC: 9709620. DOI: 10.5582/irdr.2022.01096.

References

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Bar C, Barcia G, Jennesson M, Guyader G, Schneider A, Mignot C . Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Hum Mutat. 2019; 41(1):69-80. DOI: 10.1002/humu.23915. View