EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
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 |
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
|
20493457 |
2010 |
Malignant neoplasm of breast
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
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 |
Epileptic encephalopathy
|
0.130 |
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 |
Epileptic encephalopathy
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
This patient is the second reported case with 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes associated with epileptic encephalopathy and myoclonic seizures.
|
29897043 |
2018 |
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 |
Severe intellectual disability
|
0.110 |
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 |
X-linked infantile spasms
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
In five subjects, deletions include SPTAN1, previously associated with early infantile epileptic encephalopathy, infantile spasms, intellectual disability, and hypomyelination.
|
22722545 |
2012 |
X-linked infantile spasms
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Epilepsies, Partial
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Abnormality of brain morphology
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Brain atrophy
|
0.040 |
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 |
Brain atrophy
|
0.040 |
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 |
Brain atrophy
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation.
|
22656320 |
2013 |
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 |
Primary Sjögren's syndrome
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
The frequency of alpha-fodrin autoantibodies detected by this method is similar in sera from primary SS patients and SLE patients with or without secondary SS.
|
12673889 |
2003 |
Epilepsy
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
|
30548380 |
2018 |
Schizophrenia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
There is evidence that the Psh BI SPTAN1 gene polymorphism does not play a major role in the genetic component of schizophrenia.
|
10402491 |
1999 |