EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
|
0.610 |
AlteredExpression
|
disease |
BEFREE |
Overexpression of human EIEE5 mutant SPTAN1 in embryonic rat forebrain and mouse hippocampal neurons led to similar developmental defects that were also observed in EIEE5 patient-derived neurons.
|
29337302 |
2018 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
|
20493457 |
2010 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
|
0.610 |
Biomarker
|
disease |
CTD_human |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
West Syndrome
|
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 |
West Syndrome
|
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 |
West Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation.
|
22656320 |
2013 |
West Syndrome
|
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 |
West Syndrome
|
0.460 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
|
22196487 |
2012 |
West Syndrome
|
0.460 |
Biomarker
|
disease |
BEFREE |
Infantile spasms may be associated with interactions between ATXN2 and the postsynaptic structural proteins MAGI2 and SPTAN1.
|
21880993 |
2011 |
West Syndrome
|
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 |
West Syndrome
|
0.460 |
GermlineCausalMutation
|
disease |
ORPHANET |
Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter.
|
18065176 |
2008 |
West Syndrome
|
0.460 |
Biomarker
|
disease |
HPO |
|
|
|
Liver Cirrhosis, Experimental
|
0.300 |
Biomarker
|
disease |
CTD_human |
Systems level analysis and identification of pathways and networks associated with liver fibrosis.
|
25380136 |
2014 |
Degenerative Diseases, Central Nervous System
|
0.300 |
Biomarker
|
group |
CTD_human |
Initial biological qualification of SBDP-145 as a biomarker of compound-induced neurodegeneration in the rat.
|
25015659 |
2014 |
Neurodegenerative Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
Initial biological qualification of SBDP-145 as a biomarker of compound-induced neurodegeneration in the rat.
|
25015659 |
2014 |
Degenerative Diseases, Spinal Cord
|
0.300 |
Biomarker
|
group |
CTD_human |
Initial biological qualification of SBDP-145 as a biomarker of compound-induced neurodegeneration in the rat.
|
25015659 |
2014 |
Malignant neoplasm of breast
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
Cerebral atrophy
|
0.140 |
Biomarker
|
disease |
BEFREE |
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
|
29050398 |
2017 |
Cerebral atrophy
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation.
|
22656320 |
2013 |
Cerebral atrophy
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
Recent study has shown that mutations in the alpha-II-spectrin (SPTAN1) gene cause early onset intractable seizures, severe developmental delay, diffuse hypomyelination, and widespread brain atrophy.
|
22429196 |
2012 |
Cerebral atrophy
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous in-frame mutations (p.E2207del and p.R2308_M2309dup) in the α-II subunit of spectrin (SPTAN1) were recently identified in two patients with intellectual disability (ID), infantile spasms (IS), hypomyelination, and brain atrophy.
|
22258530 |
2012 |
Cerebral atrophy
|
0.140 |
Biomarker
|
disease |
HPO |
|
|
|