SCN1A, sodium voltage-gated channel alpha subunit 1, 6323
N. diseases: 287; N. variants: 533
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. | 17561957 | 2007 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. | 16430863 | 2006 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. | 16430863 | 2006 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Severe myoclonic epilepsy in infancy: Dravet syndrome. | 15508915 | 2005 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | SCN1A mutations and epilepsy. | 15880351 | 2005 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | SCN1A mutations and epilepsy. | 15880351 | 2005 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Severe myoclonic epilepsy in infancy: Dravet syndrome. | 15508915 | 2005 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. | 11359211 | 2001 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. | 11359211 | 2001 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. | 10742094 | 2000 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. | 10742094 | 2000 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. | 9126059 | 1997 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. | 9126059 | 1997 |