rs118192211, KCNQ2

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 GeneticVariation UNIPROT Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. 26138355 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 CausalMutation CLINVAR Early and effective treatment of KCNQ2 encephalopathy. 25880994 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 GeneticVariation UNIPROT Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. 25740509 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 CausalMutation CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 GeneticVariation UNIPROT Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24463883 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 CausalMutation CLINVAR The variable phenotypes of KCNQ-related epilepsy. 25052858 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 CausalMutation CLINVAR Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 23621294 2013
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 GeneticVariation UNIPROT A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. 15249611 2004
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 GeneticVariation UNIPROT Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. 12742592 2003
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
0.700 CausalMutation CLINVAR Benign familial neonatal convulsions: always benign? 17129708 2007
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
0.700 CausalMutation CLINVAR
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.010 GeneticVariation BEFREE We investigated the functional and subcellular consequences of this mutation and compared it to another mutation (Kv7.2(A294G)) associated with a benign epilepsy and affecting the same residue. 26007637 2015
Seizures
CUI: C0036572
Disease: Seizures
0.010 GeneticVariation BEFREE The different KCNQ2 abnormalities led to different phenotypes and included a novel intragenic duplication, c.419_430dup, in an infant with BFNS, a 0.761Mb 20q13.3 contiguous gene deletion in an infant with seizures at 3 months, and a recurrent de novo missense mutation c.881C>T in a neonate with "KCNQ2-encephalopathy." 25052858 2014
EPILEPSY, BENIGN NEONATAL, 2
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
0.010 GeneticVariation BEFREE The different KCNQ2 abnormalities led to different phenotypes and included a novel intragenic duplication, c.419_430dup, in an infant with BFNS, a 0.761Mb 20q13.3 contiguous gene deletion in an infant with seizures at 3 months, and a recurrent de novo missense mutation c.881C>T in a neonate with "KCNQ2-encephalopathy." 25052858 2014
Benign Familial Convulsion
CUI: C3889476
Disease: Benign Familial Convulsion
0.010 GeneticVariation BEFREE The different KCNQ2 abnormalities led to different phenotypes and included a novel intragenic duplication, c.419_430dup, in an infant with BFNS, a 0.761Mb 20q13.3 contiguous gene deletion in an infant with seizures at 3 months, and a recurrent de novo missense mutation c.881C>T in a neonate with "KCNQ2-encephalopathy." 25052858 2014
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
0.010 GeneticVariation BEFREE The different KCNQ2 abnormalities led to different phenotypes and included a novel intragenic duplication, c.419_430dup, in an infant with BFNS, a 0.761Mb 20q13.3 contiguous gene deletion in an infant with seizures at 3 months, and a recurrent de novo missense mutation c.881C>T in a neonate with "KCNQ2-encephalopathy." 25052858 2014