PhenomeGene — Human Disease Gene Website SeriesKCNQ3

Publications

Charlier C et al.A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet. 1998;18(1):53-5. PMID: 9425900.

Miceli F et al.KCNQ3-Related Disorders. 2017.

Lauritano A et al.A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy. Epilepsia Open. 2019;4(3):464-75. PMID: 31440727.

Li H et al.A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions. Epilepsy Res. 2008;79(1):1-5. PMID: 18249525.

Maljevic S et al.Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures. Mol Syndromol. 2016;7(4):189-96. PMID: 27781029.

Miceli F et al.A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability. Epilepsia. 2015;56(2):e15-20. PMID: 25524373.

Nardello R et al.Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event? Epileptic Disord. 2020;22(6):807-10. PMID: 33337327.

Sands T et al.Autism and developmental disability caused by KCNQ3 gain-of-function variants. Ann Neurol. 2019;86(2):181-92. PMID: 31177578.