Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
Creatine transporter (CrT) deficiency is an X-linked intellectual disability caused by mutations of CrT.
|
31038003 |
2019 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CTD), an orphan neurodevelopmental disorder presenting with brain Cr deficiency, intellectual disability, seizures, movement and autistic-like behavioral disturbances, language and speech impairment.
|
30635645 |
2019 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report.
|
30400883 |
2018 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The X-linked creatine transporter deficiency (CRTD) caused by an SLC6A8 mutation represents the second most common cause of X-linked intellectual disability.
|
28065824 |
2017 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Creatine transporter deficiency (CTD) is an X-linked, neurometabolic disorder associated with intellectual disability that is characterized by brain creatine (Cr) deficiency and caused by mutations in SLC6A8, the Cr transporter 1 protein gene.
|
27096572 |
2016 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and autistic-like behavioural disturbances, language and speech impairment.
|
27466184 |
2016 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
Creatine transport has been assigned to creatine transporter 1 (CRT1), encoded by mental retardation associated SLC6A8.
|
23578822 |
2013 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Deficiency caused by mutations in the creatine transporter gene (SLC6A8/CT1) is an X-linked form of intellectual disability.
|
24140398 |
2013 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
The only SLC6A8-deficient female patient in our series presented with the severe phenotype usually characterizing affected male patients, an observation in agreement with recent evidence that is in support of the fact that this X-linked disorder might be more frequent than expected in the female population with intellectual disability.
|
23234264 |
2012 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The creatine transporter (CRTR) defect is a recently discovered cause of X-linked intellectual disability for which treatment options have been explored.
|
21556832 |
2012 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
SLC6A8, an X-linked gene, encodes the creatine transporter (CRTR) and its mutations lead to cerebral creatine (Cr) deficiency which results in mental retardation, speech and language delay, autistic-like behaviour and epilepsy (CRTR-D, OMIM 300352).
|
22713831 |
2012 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Creatine deficiency syndrome due to mutations in X-linked SLC6A8 gene results in nonspecific intellectual disability (ID).
|
21910234 |
2011 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.
|
21267006 |
2011 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.
|
17603797 |
2007 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Our findings of a minimum of four pathogenic mutations and two potentially pathogenic mutations indicate that about 1% of males with MR of unknown etiology might have a SLC6A8 mutation.
|
16738945 |
2006 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Our findings of a minimum of four pathogenic mutations and two potentially pathogenic mutations indicate that about 1% of males with MR of unknown etiology might have a SLC6A8 mutation.
|
16738945 |
2006 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
HPO |
|
|
|