EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Several small case series identified KCTD7 mutations in patients with a rare autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and neuronal ceroid lipofuscinosis (CLN14).
|
30295347 |
2018 |
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.
|
27742667 |
2016 |
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
|
22693283 |
2012 |
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.
|
22606975 |
2012 |
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
|
22748208 |
2012 |
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
|
22748208 |
2012 |
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
|
22748208 |
2012 |
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
|
22612257 |
2012 |
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
|
22748208 |
2012 |
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
|
22693283 |
2012 |
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
|
22693283 |
2012 |
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.
|
17455289 |
2007 |
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
[Propofol with/without N2O versus thiopentone-isoflurane in surgery of supratentorial tumors].
|
2274208 |
1990 |
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
The two reported patients carrying novel pathogenic variants in KCTD7 gene presented with a remarkable phenotypic heterogeneity including: a) progressive myoclonus epilepsy without NCL-type lysosomal storages; b) progressive myoclonus epilepsy with lysosomal storages resembling NCL pattern (NCL14); c) progressive myoclonus epilepsy with epilepsia partialis continua.
|
30500434 |
2019 |
Neuronal Ceroid-Lipofuscinoses
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Biallelic KCTD7 mutations define a neurodegenerative disorder with lipofuscin and lipid droplet accumulation but without defining features of neuronal ceroid lipofuscinosis or lysosomal storage disorders.
|
30295347 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Fourteen distinct NCL subtypes (CLN1-CLN14) are known, and they are caused by mutations in different genes.
|
26443629 |
2016 |
Neuronal Ceroid-Lipofuscinoses
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
The NCLs are clinically and genetically heterogeneous and more than 14 genetically distinct NCL subtypes have been described to date (CLN1-CLN14) (Haltia and Goebel, 2012 [1]).
|
23274885 |
2013 |
Neuronal Ceroid-Lipofuscinoses
|
0.350 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whereas KCTD7 mutations have previously been linked to PME without lysosomal storage, this study clearly demonstrates that KCTD7 mutations also cause a rare, infantile-onset NCL subtype designated as CLN14.
|
22748208 |
2012 |
Neuronal Ceroid-Lipofuscinoses
|
0.350 |
Biomarker
|
disease |
BEFREE |
Whereas KCTD7 mutations have previously been linked to PME without lysosomal storage, this study clearly demonstrates that KCTD7 mutations also cause a rare, infantile-onset NCL subtype designated as CLN14.
|
22748208 |
2012 |
Neuronal Ceroid-Lipofuscinoses
|
0.350 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|