rs1554769022
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
G
0.700
GeneticVariation
CLINVAR
rs1554769099
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
X-linked infantile spasms
G
0.700
GeneticVariation
CLINVAR
rs1554770453
SPTAN1;WDR34
Jeune thoracic dystrophy
T
0.700
CausalMutation
CLINVAR
rs1554770620
SPTAN1;WDR34
Saldino-Noonan Syndrome
G
0.700
CausalMutation
CLINVAR
rs1564197227
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
A
0.700
GeneticVariation
CLINVAR
rs1564286708
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
T
0.700
CausalMutation
CLINVAR
rs398122865
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
A
0.700
CausalMutation
CLINVAR
rs431905519
SPTAN1;WDR34
SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY
C
0.700
CausalMutation
CLINVAR
rs587784438
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
C
0.700
CausalMutation
CLINVAR
rs587784440
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
GGGACCAGCT
0.700
CausalMutation
CLINVAR
rs587784440
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
Epilepsies, Partial
G
0.700
GeneticVariation
CLINVAR
rs751323441
SPTAN1;WDR34
Jeune thoracic dystrophy
A
0.700
CausalMutation
CLINVAR
rs77358650
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
Abnormality of brain morphology
A
0.700
GeneticVariation
CLINVAR
rs796053335
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
Epileptic encephalopathy
GGCATGC
0.700
CausalMutation
CLINVAR
rs370304886
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
Intellectual Disability
0.010
GeneticVariation
BEFREE
We also found a de novo missense variant (p.R566P ) of unclear clinical significance in a patient with non-syndromic ID .
22258530
2012
rs587784440
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
Seizures
GGGACCAGCT
0.700
CausalMutation
CLINVAR
Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation.
22656320
2013
rs776878433
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
Amyotrophic Lateral Sclerosis
0.020
GeneticVariation
BEFREE
We here investigated the level of activation of the Ca(2+)-dependent protease calpain-1 in spin al cord of SOD1(G93A ) mice to ascertain a possible role of th e protease in the aetiology of ALS .
25151305
2014
rs587784440
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
Seizures
GGGACCAGCT
0.700
CausalMutation
CLINVAR
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
25631096
2015
rs776878433
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
Amyotrophic Lateral Sclerosis
0.020
GeneticVariation
BEFREE
In this study, we tested the effects of human ASC conditional medium (ASC-CM) in human amyotrophic lateral sclerosis (ALS ) transgenic mouse model expressing mutant superoxide dismutase (SOD1(G93A )).
26586020
2015
rs776878433
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
Cutaneous Mastocytosis
0.010
GeneticVariation
BEFREE
Treating symptomatic SOD1(G93A ) mice with ASC-CM significantly increased post-onset survival time and lifespan.
26586020
2015
rs143166100
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
Epilepsy, Rolandic
G
0.700
CausalMutation
CLINVAR
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
29358611
2018
rs1441152520
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
Epilepsy, Rolandic
G
0.700
CausalMutation
CLINVAR
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
29358611
2018
rs1554759745
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
Epilepsy, Rolandic
A
0.700
CausalMutation
CLINVAR
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
29358611
2018
rs569997507
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
Epilepsy, Rolandic
T
0.700
CausalMutation
CLINVAR
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
29358611
2018
rs780658554
×
Entrez Id:
6709
Gene Symbol:
SPTAN1
SPTAN1
Epilepsy, Rolandic
T
0.700
CausalMutation
CLINVAR
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
29358611
2018