SPTAN1, spectrin alpha, non-erythrocytic 1, 6709

N. diseases: 82; N. variants: 20
Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 GeneticVariation group BEFREE Although some of these patients' features are consistent with the known SPTAN1 encephalopathy phenotype, these two children do not have epilepsy, in contrast to reports about nearly every other patient with heterozygous SPTAN1 variants and in all patients with a variant near the C-terminal coding region. 30548380 2018
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 Biomarker group BEFREE Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. 29050398 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 Biomarker group BEFREE The aim of this review is to delineate SPTAN1 encephalopathy as a distinct clinical syndrome. 25631096 2015