Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 Biomarker disease BEFREE We searched PubMed using the free text term search 'KCNQ2 AND Epilepsy' and identified additional records using PubMed Medical Subject Headings (MeSH). 30771507 2020
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 GeneticVariation disease BEFREE With the advances in understanding the molecular basis of many epilepsies, targeted therapies become available, for example for KCNQ2 mutation related epilepsies, Dravet syndrome or tuberous sclerosis complex. 31751548 2019
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 Biomarker disease BEFREE KCNQ2 related early-onset epileptic encephalopathies in Chinese children. 31152295 2019
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 Biomarker disease BEFREE Additionally, there might be some treatment implications in 30% of patients with genetic diagnoses including SCN1A, SCN2A, SCN8A, and KCNQ2 associated epilepsies by application of effective anti-epileptic drugs or the ketogenic diet therapy. 31487502 2019
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 GeneticVariation disease BEFREE The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. 28687180 2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 GeneticVariation disease BEFREE Over one hundred mutations in the Kv7.2 (KCNQ2) gene encoding for phosphatidylinositol 4,5-bisphosphate (PIP<sub>2</sub>)-sensitive voltage-gated K<sup>+</sup> channel subunits have been identified in early-onset epilepsies with wide phenotypic variability. 29383681 2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 GeneticVariation disease BEFREE Abnormal γ-aminobutyric acid neurotransmission in a Kcnq2 model of early onset epilepsy. 28575529 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 Biomarker disease BEFREE To report the ictal aEEG pattern in neonates with KCNQ2-related epilepsy. 28926830 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 Biomarker disease BEFREE Epilepsy-Associated KCNQ2 Channels Regulate Multiple Intrinsic Properties of Layer 2/3 Pyramidal Neurons. 28100740 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 GeneticVariation disease BEFREE We also analyzed 10 affected family members with the same KCNQ2 mutation: all had epilepsy (8 had BFNS and 2 had CSWS). 28038823 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 GeneticVariation disease BEFREE We herein provide evidence for a new phenotypic and functional profile in KCNQ2-related epilepsy: infantile spasms without prior neonatal seizures associated with a gain-of-function gene variant. 27861786 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 Biomarker disease 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
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 Biomarker disease BEFREE KCNQ2-Associated Neonatal Epilepsy: Phenotype Might Correlate With Genotype. 28399683 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 GeneticVariation disease BEFREE It also demonstrates that KCNQ2 mutations contribute to an important percentage of Spanish patients with epilepsy. 27535030 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 GeneticVariation disease BEFREE Missense mutations in SCN2A (p.Leu1342Pro) and KCNQ2 (p.Ala306Thr) were found in two patients with no history of epilepsy before the onset of ISs. 26138355 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 GeneticVariation disease BEFREE Kv7.2/Kv7.3 dysfunction resulting from KCNQ2 mutations predominantly causes self-limited or benign epilepsy in neonates, but also causes early onset epileptic encephalopathy. 26910900 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 GeneticVariation disease BEFREE We identified two epilepsy-associated single nucleotide variants in our case: CDKL5 p.Ala40Val and KCNQ2 p.Glu515Asp. 25819767 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 GeneticVariation disease BEFREE Examples of that include the need to avoid specific drugs in Dravet syndrome and the ongoing investigations of the potential use of new directed therapies such as retigabine in KCNQ2-related epilepsies, quinidine in KCNT1-related epilepsies, and memantine in GRIN2A-related epilepsies. 26022171 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 GeneticVariation disease BEFREE Mutations in Kv7.2 (KCNQ2) and Kv7.3 (KCNQ3) genes, encoding for voltage-gated K(+) channel subunits underlying the neuronal M-current, have been associated with a wide spectrum of early-onset epileptic disorders ranging from benign familial neonatal seizures to severe epileptic encephalopathies. 25740509 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 GeneticVariation disease BEFREE Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early onset epilepsies with wide phenotypic heterogeneity, ranging from benign familial neonatal seizures (BFNS) to epileptic encephalopathy with cognitive impairment, drug resistance, and characteristic electroencephalography (EEG) and neuroradiologic features. 25524373 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 AlteredExpression disease BEFREE Genetic or experience-dependent reduction of KCNQ2/3 channel activity is linked with disorders that are characterized by neuronal hyperexcitability, such as epilepsy and tinnitus. 26063916 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 GeneticVariation disease BEFREE Mutations in the KCNQ2 gene encoding the voltage-dependent potassium M channel Kv7.2 subunit cause either benign epilepsy or early onset epileptic encephalopathy (EOEE). 26007637 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 Biomarker disease BEFREE In addition, we describe, for the first time, that some mutations impair channel regulation by syntaxin-1A, highlighting a novel pathogenetic mechanism for KCNQ2-related epilepsies. 24375629 2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.400 GeneticVariation disease BEFREE The development of severe epilepsy and cognitive decline in children carrying 5 of the 7 studied KCNQ2 mutations can be related to a dominant-negative reduction of the resulting potassium current at subthreshold membrane potentials. 24318194 2014