Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. | 27864847 | 2017 |
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|
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 |
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|
0.800 | GeneticVariation | UNIPROT | Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. | 26138355 | 2016 |
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|
0.800 | GeneticVariation | UNIPROT | Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. | 25818041 | 2015 |
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|
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 |
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|
0.800 | GeneticVariation | UNIPROT | Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. | 24463883 | 2014 |
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|
0.800 | GeneticVariation | UNIPROT | A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. | 15249611 | 2004 |
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|
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 |
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|
C | 0.800 | CausalMutation | CLINVAR |