KCNQ2

Publications

Devaux J et al. A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity. Epilepsia. 2016;57(5):e87-93. PMID: 27030113.

Dirkx N et al. The Role of Kv7.2 in Neurodevelopment: Insights and Gaps in Our Understanding. Front Physiol. 2020;11:570588. PMID:33192566.

Hortigüela M et al. Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations. J Hum Genet. 2017;62(2):185-9. PMID:27535030.

Goto A et al. Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy. Epilepsia. 2019;60(9):1870-80. PMID:31418850.

Mary L et al. Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy. Am J Med Genet A. 2021. PMID:33754465.

Miceli F et al. KCNQ2-Related Disorders. GeneReviews(®). Seattle (WA): University of Washington, Seattle, Copyright © 1993-2020.

Miceli F et al. Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits. Proc Natl Acad Sci U S A. 2013;110(11):4386-91. PMID:23440208.

Miceli F et al. Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. J Neurosci. 2015;35(9):3782-93. PMID:25740509.

Millichap JJ et al. Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. Epilepsia. 2017;58(1):e10-e5. PMID:27861786.

Millichap JJ et al. KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. Neurol Genet. 2016;2(5):e96. PMID:27602407.

Mulkey SB et al. Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. Epilepsia. 2017;58(3):436-45. PMID:28139826.

Pisano T et al. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia. 2015;56(5):685-91. PMID:25880994.

Soldovieri MV et al. Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. J Neurosci. 2007;27(18):4919-28. PMID:17475800.

Soldovieri MV et al. Driving with no brakes: molecular pathophysiology of Kv7 potassium channels. Physiology (Bethesda). 2011;26(5):365-76. PMID:22013194.

Weckhuysen S et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol. 2012;71(1):15-25. PMID:22275249.

Weckhuysen S et al. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology. 2013;81(19):1697-703. PMID:24107868.

Wang HS et al. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science. 1998;282(5395):1890-3. PMID:9836639.