Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.670 | Biomarker | group | GENOMICS_ENGLAND | |||||||
|
0.670 | Biomarker | group | HPO | |||||||
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0.670 | GeneticVariation | group | BEFREE | Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. | 16236810 | 2006 | ||||
|
0.670 | Biomarker | group | CTD_human | Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. | 16236810 | 2006 | ||||
|
0.670 | GeneticVariation | group | BEFREE | De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. | 25725044 | 2015 | ||||
|
0.670 | GeneticVariation | group | BEFREE | SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. | 25785782 | 2015 | ||||
|
0.670 | GeneticVariation | group | BEFREE | Mutations in SCN8A are associated with epilepsy and intellectual disability. | 26252990 | 2016 | ||||
|
0.670 | GeneticVariation | group | BEFREE | Complete loss-of-function variants of SCN8A have been identified in cases of isolated intellectual disability. | 29726066 | 2018 | ||||
|
0.670 | GeneticVariation | group | BEFREE | We first studied the biophysical and neurophysiological consequences of four mutations in the human Na+ channel gene SCN8A causing either mild (E1483K) or severe epilepsy (R1872W), or intellectual disability and autism without epilepsy (R1620L, A1622D). | 30615093 | 2019 | ||||
|
0.670 | Biomarker | group | BEFREE | We found 36 probands who presented with an SCN8A-related epilepsy and normal intellect (33%) or mild (61%) to moderate ID (6%). | 30968951 | 2019 |