Case Reports
doi: 10.1212/01.wnl.0000069465.53698.bd.
A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes
Affiliations
- PMID: 12847176
- DOI: 10.1212/01.wnl.0000069465.53698.bd
Item in Clipboard
Case Reports
A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes
Neurology.
.
Abstract
Patients with benign familial neonatal convulsions (BFNC) may develop various epilepsies or epilepsy-associated EEG traits. A heterozygous 1-base pair deletion (2043DeltaT) in the KCNQ2 gene encoding for K+ channel subunits was found in a patient with BFNC who showed centrotemporal spikes at age 3 years. Electrophysiologic studies showed that mutant K+ channel subunits failed to give rise to functional homomeric channels or exert dominant-negative effects when expressed with KCNQ2/KCNQ3 subunits.
Similar articles
-
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.Brain. 2003 Dec;126(Pt 12):2726-37. doi: 10.1093/brain/awg286. Epub 2003 Oct 8. Brain. 2003. PMID: 14534157
-
Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels.J Neurosci. 2002 Jan 15;22(2):RC199. doi: 10.1523/JNEUROSCI.22-02-j0003.2002. J Neurosci. 2002. PMID: 11784811 Free PMC article.
-
Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions.J Biol Chem. 2006 Jan 6;281(1):418-28. doi: 10.1074/jbc.M510980200. Epub 2005 Oct 31. J Biol Chem. 2006. PMID: 16260777
-
[Genetic background of epilepsies].Ideggyogy Sz. 2004 May 20;57(5-6):141-51. Ideggyogy Sz. 2004. PMID: 15264690 Review. Hungarian.
-
[Benign familial neonatal convulsion].Ryoikibetsu Shokogun Shirizu. 2002;(37 Pt 6):54-7. Ryoikibetsu Shokogun Shirizu. 2002. PMID: 12483827 Review. Japanese. No abstract available.
Cited by
-
A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data.Front Pediatr. 2019 Sep 6;7:348. doi: 10.3389/fped.2019.00348. eCollection 2019. Front Pediatr. 2019. PMID: 31552204 Free PMC article.
-
The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.J Korean Med Sci. 2010 Feb;25(2):324-6. doi: 10.3346/jkms.2010.25.2.324. Epub 2010 Jan 22. J Korean Med Sci. 2010. PMID: 20119593 Free PMC article.
-
Neonatal seizures: an update on mechanisms and management.Clin Perinatol. 2009 Dec;36(4):881-900, vii. doi: 10.1016/j.clp.2009.08.001. Clin Perinatol. 2009. PMID: 19944840 Free PMC article. Review.
-
KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series.Mol Genet Genomic Med. 2019 Jul;7(7):e00816. doi: 10.1002/mgg3.816. Epub 2019 Jun 14. Mol Genet Genomic Med. 2019. PMID: 31199083 Free PMC article.
-
HCN and KV7 (M-) channels as targets for epilepsy treatment.Neuropharmacology. 2013 Jun;69:75-81. doi: 10.1016/j.neuropharm.2012.03.005. Epub 2012 Mar 15. Neuropharmacology. 2013. PMID: 22446478 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
