| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy. | 27779742 | 2017 |
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|
C | 0.700 | CausalMutation | CLINVAR | 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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|
C | 0.700 | CausalMutation | CLINVAR | Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. | 25982755 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. | 25473036 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | De novo mutations in epileptic encephalopathies. | 23934111 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. | 23692823 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. | 14985406 | 2004 |
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|
T | 0.700 | GeneticVariation | CLINVAR | KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. | 14534157 | 2003 |
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|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
AAG | 0.700 | CausalMutation | CLINVAR |