Variant: rs749205120 

    present in Gene: KCNQ3
    present in Chromosome: 8
    Position on Chromosome: 132180245
    Alleles of this Variant: C/A;T

rs749205120 in KCNQ3 gene and Muscle hypotonia 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 10852552 2000 A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions.

PMID 19298256 2009 Neural KCNQ (Kv7) channels.

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

PMID 23596459 2013 Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 23146207 2013 Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.

PMID 24375629 2014 Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

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

PMID 26350515 2016 Novel genetic causes for cerebral visual impairment.

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 9425900 1998 A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs749205120 in KCNQ3 gene and Poor school performance PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.