| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.460 | GeneticVariation | disease | BEFREE | De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. | 29050398 | 2017 | ||||
|
0.460 | GeneticVariation | disease | BEFREE | The major clinical features of SPTAN1 mutations include epileptic encephalopathy with hypsarrhythmia, no visual attention, acquired microcephaly, spastic quadriplegia and severe intellectual disability. | 25631096 | 2015 | ||||
|
0.460 | GeneticVariation | disease | BEFREE | Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. | 22656320 | 2013 | ||||
|
0.460 | GeneticVariation | disease | BEFREE | By screening SPTAN1 in 95 patients with idiopathic ID, we found a de novo in-frame mutation (p.Q2202del) in the same C-terminal domain in a patient with mild generalized epilepsy and pontocerebellar atrophy, but without IS, hypomyelination, or other brain structural defects, allowing us to define the core phenotype associated with these C-terminal SPTAN1 mutations. | 22258530 | 2012 | ||||
|
0.460 | GermlineCausalMutation | disease | ORPHANET | Genes of early-onset epileptic encephalopathies: from genotype to phenotype. | 22196487 | 2012 | ||||
|
0.460 | Biomarker | disease | BEFREE | Infantile spasms may be associated with interactions between ATXN2 and the postsynaptic structural proteins MAGI2 and SPTAN1. | 21880993 | 2011 | ||||
|
0.460 | GeneticVariation | disease | BEFREE | Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. | 20493457 | 2010 | ||||
|
0.460 | GermlineCausalMutation | disease | ORPHANET | Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. | 18065176 | 2008 | ||||
|
0.460 | Biomarker | disease | HPO |