| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.170 | GeneticVariation | group | BEFREE | Heterozygous inherited mutations in their principle subunits K<sub>v</sub> 7.2/KCNQ2 and K<sub>v</sub> 7.3/KCNQ3 cause benign familial neonatal epilepsy whereas patients with de novo heterozygous K<sub>v</sub> 7.2 mutations are associated with early-onset epileptic encephalopathy and neurodevelopmental disorders characterized by intellectual disability, developmental delay and autism. | 31283873 | 2020 | ||||
|
0.170 | Biomarker | group | BEFREE | We think that KCNQ2 associated epileptic encephalopathy should be included in the differential diagnosis of childhood onset epilepsy and early onset global developmental delay, cognitive dysfunction, or ID. | 28602030 | 2017 | ||||
|
0.170 | GeneticVariation | group | BEFREE | Here, we set out to determine the disease mechanism of 7 de novo missense KCNQ2 mutations that were recently described in patients with a severe epileptic encephalopathy including pharmacoresistant seizures and pronounced intellectual disability. | 24318194 | 2014 | ||||
|
0.170 | GeneticVariation | group | BEFREE | Mutations in KCNQ2 and SCN2A also contribute to severe infantile epileptic encephalopathies (IEEs) in which seizures and intellectual disability co-occur. | 23566103 | 2013 | ||||
|
0.170 | GeneticVariation | group | BEFREE | Since Rett and Teubel reported the first family in 1964 and the identification of KCNQ2 gene mutations in this family by Zimprich et al. in 2006, phenotypic variability has been recognized including: later onset of seizures, myokymia in isolation or accompanied by seizures, neurological deficit and mental retardation. | 22169383 | 2012 | ||||
|
0.170 | Biomarker | group | BEFREE | A family with dominantly inherited neonatal seizures and intellectual disability was atypical for neonatal and infantile seizure syndromes associated with potassium (KCNQ2 and KCNQ3) and sodium (SCN2A) channel mutations. | 20384724 | 2010 | ||||
|
0.170 | GeneticVariation | group | BEFREE | A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. | 15249611 | 2004 | ||||
|
0.170 | Biomarker | group | HPO |