Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.300 | Biomarker | disease | CTD_human | Hemiplegia after thyrotropin alfa in a hypothyroid patient with thyroid carcinoma metastatic to the brain. | 10566621 | 1999 | ||||
|
0.030 | GeneticVariation | disease | BEFREE | We broadened the clinical spectrum associated with SLC1A3 mutations to include milder manifestations of EA without seizures or alternating hemiplegia. | 19139306 | 2009 | ||||
|
0.030 | GeneticVariation | disease | BEFREE | Recently, a missense mutation was found in the SLC1A3 gene that encodes the glutamate transporter EAAT1, in a patient with alternating hemiplegia, episodic ataxia, seizures, and headache. | 17236110 | 2006 | ||||
|
0.030 | GeneticVariation | disease | BEFREE | A patient with episodic ataxia, seizures, migraine, and alternating hemiplegia has a heterozygous mutation in SLC1A3 that is not present in his asymptomatic parents and controls. | 16116111 | 2005 | ||||
|
0.020 | GeneticVariation | disease | BEFREE | We describe a case of a child suffering from alternating hemiplegia with a heterozygous p. E815K pathogenic variant of ATP1A3. | 28637637 | 2017 | ||||
|
0.020 | AlteredExpression | disease | BEFREE | ATP1A3 heart expression may be the explanation for the association of alternating hemiplegia and asystole episodes. | 24291144 | 2014 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | This study describes for the first time the association between TBC1D24 variants and AH expanding the phenotypic spectrum of TBC1D24-related diseases and suggesting that TBC1D24 molecular analysis should be considered in the diagnostic work up of AH patients. | 28292732 | 2017 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | These results also suggest that CACNA1A mutation scanning is indicated in patients with a severe neurological phenotype that includes paroxysmal (alternating) hemiplegia. | 18498393 | 2008 |