Abstract
Benign familial neonatal convulsions (BFNC) is a rare autosomal inherited epilepsy. We studied the KCNQ2 coding region in a large, four-generation, Italian family with BFNC. A missense mutation C686T predicting the change of one of the innermost arginine (R214W) of the key functional voltage sensor (S4 helix), has been found in all affected members. This substitution probably reduces the movement of the voltage sensor that precedes channel opening during voltage-dependent activation. Several mutations affecting the trans-membrane domain and the pore region of the K+ channels belonging to the KQT-like family have been described in some human diseases associated with altered regulation of cellular excitability (ie BFNC, some LQT syndromes and DFNA2). R214W represents the first mutation involving the region of the voltage sensor.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
del Giudice, E., Coppola, G., Scuccimarra, G. et al. Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. Eur J Hum Genet 8, 994–997 (2000). https://doi.org/10.1038/sj.ejhg.5200570
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.ejhg.5200570
Keywords
This article is cited by
-
Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families
BMC Medical Genomics (2021)
-
PIP2-dependent coupling of voltage sensor and pore domains in Kv7.2 channel
Communications Biology (2021)
-
Gene expression patterns in the hippocampus during the development and aging of Glud1(Glutamate Dehydrogenase 1) transgenic and wild type mice
BMC Neuroscience (2014)