SPTAN1, spectrin alpha, non-erythrocytic 1, 6709

N. diseases: 82; N. variants: 20
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype BEFREE αII spectrin-deficient mice die before 1 month of age and have disrupted AIS and many other neurological impairments including seizures, disrupted cortical lamination, and widespread neurodegeneration. 29038240 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.120 CausalMutation phenotype CLINVAR SPTAN1 encephalopathy: distinct phenotypes and genotypes. 25631096 2015
CUI: C0036572
Disease: Seizures
Seizures 		0.120 CausalMutation phenotype CLINVAR Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. 22656320 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.120 GeneticVariation phenotype BEFREE This report supports the causative relationship between SPTAN1 mutations and early onset intractable seizures with severe hypomyelination and widespread brain volume reduction. 22429196 2012
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype HPO