| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.100 | CausalMutation | CLINVAR | SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome. | 28079314 | 2017 |
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0.100 | GeneticVariation | CLINVAR | Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome. | 28012175 | 2017 |
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0.100 | CausalMutation | CLINVAR | Audit of use of stiripentol in adults with Dravet syndrome. | 27231140 | 2017 |
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0.100 | CausalMutation | CLINVAR | Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. | 27781031 | 2016 |
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0.100 | CausalMutation | CLINVAR | Pitfalls in genetic testing: the story of missed SCN1A mutations. | 27465585 | 2016 |
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0.100 | GeneticVariation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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0.100 | CausalMutation | CLINVAR | "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." | 26096185 | 2015 |
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0.100 | CausalMutation | CLINVAR | Lamotrigine can be beneficial in patients with Dravet syndrome. | 25243660 | 2015 |
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0.100 | CausalMutation | CLINVAR | Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. | 25818041 | 2015 |
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0.100 | CausalMutation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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0.100 | CausalMutation | CLINVAR | A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. | 25401298 | 2015 |
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0.100 | CausalMutation | CLINVAR | Long-term course of Dravet syndrome: a study from an epilepsy center in Japan. | 24502503 | 2014 |
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0.100 | CausalMutation | CLINVAR | Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study. | 23762420 | 2013 |
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0.100 | CausalMutation | CLINVAR | De novo mutations in epileptic encephalopathies. | 23934111 | 2013 |
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0.100 | CausalMutation | CLINVAR | Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. | 23895530 | 2013 |
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0.100 | GeneticVariation | CLINVAR | Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. | 23708187 | 2013 |
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0.100 | CausalMutation | CLINVAR | Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism. | 23821540 | 2013 |
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0.100 | CausalMutation | CLINVAR | Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. | 22848613 | 2012 |
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0.100 | CausalMutation | CLINVAR | Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. | 22780858 | 2012 |
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0.100 | GeneticVariation | CLINVAR | Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. | 22780858 | 2012 |
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0.100 | CausalMutation | CLINVAR | Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. | 23195492 | 2012 |
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0.100 | CausalMutation | CLINVAR | Genotype-phenotype associations in SCN1A-related epilepsies. | 21248271 | 2011 |
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0.100 | CausalMutation | CLINVAR | SCN1A mutational analysis in Korean patients with Dravet syndrome. | 21868258 | 2011 |
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0.100 | CausalMutation | CLINVAR | Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family. | 20562086 | 2010 |
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0.100 | GeneticVariation | CLINVAR | Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1. | 20550552 | 2010 |