| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.440 | GeneticVariation | disease | BEFREE | The comparison of the clinical features between the 19 SLC2A1 mutated and the 226 non-mutated patients revealed that the onset of epilepsy within the first year of life (when associated with developmental delay or other neurological manifestations), the association of epilepsy with PD and acquired microcephaly are more common in mutated subjects. | 30895386 | 2019 | ||||
|
0.440 | Biomarker | disease | GENOMICS_ENGLAND | A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. | 27725288 | 2016 | ||||
|
0.440 | CausalMutation | disease | CLINVAR | Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. | 25487684 | 2015 | ||||
|
0.440 | GeneticVariation | disease | BEFREE | Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and microcephaly, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies. | 25022942 | 2014 | ||||
|
0.440 | CausalMutation | disease | CLINVAR | Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. | 22976442 | 2012 | ||||
|
0.440 | CausalMutation | disease | CLINVAR | Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. | 21555602 | 2011 | ||||
|
0.440 | GeneticVariation | disease | BEFREE | A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. | 17489814 | 2007 | ||||
|
0.440 | GeneticVariation | disease | BEFREE | Fifteen children presenting with infantile seizures, acquired microcephaly, and developmental delay were found to have novel heterozygous mutations in the GLUT1 (SLC2A1). | 10980529 | 2000 | ||||
|
0.440 | Biomarker | disease | HPO |