EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
|
0.800 |
Biomarker
|
disease |
MGD |
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
|
30602030 |
2019 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
|
28428906 |
2017 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.
|
28292732 |
2017 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.
|
27541164 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.
|
25769375 |
2015 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.
|
23526554 |
2013 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
|
20727515 |
2010 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Epilepsy, Myoclonic, Infantile
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.
|
28292732 |
2017 |
Epilepsy, Myoclonic, Infantile
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TBC1D24 gene (MIM 613577) cause familial infantile myoclonic epilepsy (FIME; 605021) and early infantile epileptic encephalopathy-16 (EIEE16; 615338), both inherited with an autosomal recessive trait.
|
28292732 |
2017 |
Epilepsy, Myoclonic, Infantile
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
|
28428906 |
2017 |
Epilepsy, Myoclonic, Infantile
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.
|
25769375 |
2015 |
Epilepsy, Myoclonic, Infantile
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.
|
25769375 |
2015 |
Epilepsy, Myoclonic, Infantile
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genetic basis of DOORS syndrome: an exome-sequencing study.
|
24291220 |
2014 |
Epilepsy, Myoclonic, Infantile
|
0.760 |
Biomarker
|
disease |
BEFREE |
TBC1D24 loss of function has been associated to idiopathic infantile myoclonic epilepsy, as well as to drug-resistant early-onset epilepsy with intellectual disability.
|
23526554 |
2013 |
Epilepsy, Myoclonic, Infantile
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Recessive TBC1D24 gene mutations have been described in two families: an Italian family afflicted with familial infantile myoclonic epilepsy, and an Arab family with focal epilepsy and intellectual disability syndrome.
|
23343562 |
2013 |
Epilepsy, Myoclonic, Infantile
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
The disorder is allelic with familial infantile myoclonic epilepsy, where intellect and neurologic examination are normal, highlighting the phenotypic variation with mutations of TBC1D24.
|
23517570 |
2013 |
Epilepsy, Myoclonic, Infantile
|
0.760 |
AlteredExpression
|
disease |
BEFREE |
TBC1D24 overexpression resulted in a significant increase in neurite length and arborization and the FIME mutations significantly reverted this phenotype.
|
20727515 |
2010 |
Epilepsy, Myoclonic, Infantile
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
|
20797691 |
2010 |
Epilepsy, Myoclonic, Infantile
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
|
20727515 |
2010 |
Epilepsy, Myoclonic, Infantile
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
|
20727515 |
2010 |
Epilepsy, Myoclonic, Infantile
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
|
20727515 |
2010 |
Epilepsy, Myoclonic, Infantile
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Epilepsy, Myoclonic, Infantile
|
0.760 |
Biomarker
|
disease |
CTD_human |
|
|
|
Digitorenocerebral Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) gene are associated with a range of inherited neurological disorders, from drug-refractory lethal epileptic encephalopathy and DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures) to non-syndromic hearing loss.
|
30335140 |
2019 |