A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome
Author:
Funder
MEXT | Japan Society for the Promotion of Science
Takeda Science Foundation
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-022-01090-5.pdf
Reference45 articles.
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2. Labro AJ, Snyders DJ. Being flexible: the voltage-controllable activation gate of kv channels. Front Pharm. 2012;3:168.
3. Bishop HI, Guan D, Bocksteins E, Parajuli LK, Murray KD, Cobb MM, et al. Distinct cell- and layer-specific expression patterns and independent regulation of Kv2 channel subtypes in cortical pyramidal neurons. J Neurosci. 2015;35:14922–42.
4. Torkamani A, Bersell K, Jorge BS, Bjork RL Jr, Friedman JR, Bloss CS, et al. De novo KCNB1 mutations in epileptic encephalopathy. Ann Neurol. 2014;76:529–40.
5. Kang SK, Vanoye CG, Misra SN, Echevarria DM, Calhoun JD, O'Connor JB, et al. Spectrum of KV 2.1 dysfunction in KCNB1-associated neurodevelopmental disorders. Ann Neurol. 2019;86:899–912.
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