Variant: rs267607198 

    present in Gene: LOC105372724;KCNQ2
    present in Chromosome: 20
    Position on Chromosome: 63413551
    Alleles of this Variant: C/A;T

rs267607198 in LOC105372724;KCNQ2 gene and EPILEPSY, BENIGN NEONATAL, 2 PMID 15249611 2004 A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.

rs267607198 in LOC105372724;KCNQ2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 PMID 24463883 2014 Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

PMID 12742592 2003 Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 25740509 2015 Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 26138355 2016 Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

PMID 15249611 2004 A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

rs267607198 in LOC105372724;KCNQ2 gene and SEIZURES, BENIGN FAMILIAL NEONATAL, 1 PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 15249611 2004 A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.

PMID 11572947 2001 Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PMID 14534157 2003 KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.

PMID 23360469 2013 Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

PMID 11175290 2000 Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.