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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.
|
27541164 |
2016 |
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 |
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 |
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 |
UNIPROT |
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
|
20727515 |
2010 |
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 |
BEFREE |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
|
28428906 |
2017 |
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 |
Digitorenocerebral Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
At present, it is unknown how different mutations of TBC1D24 cause non-syndromic deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or DOORS syndrome (OMIM 220500) that is characterized by deafness, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), mental retardation, and seizures.
|
27259978 |
2017 |
Digitorenocerebral Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TBC1D24 cause severe epilepsy and DOORS syndrome, but the molecular mechanisms underlying these pathologies are unresolved.
|
27669036 |
2016 |
Digitorenocerebral Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures).
|
30245510 |
2019 |
Digitorenocerebral Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.
|
28292732 |
2017 |
Digitorenocerebral Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
More recently, TBC1D24 mutations have been shown to cause a variable range of disorders, including epilepsy of various seizure types and severity, non-syndromic deafness, and DOORS syndrome.
|
25769375 |
2015 |
Digitorenocerebral Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain.
|
28003643 |
2017 |
Digitorenocerebral Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
|
28428906 |
2017 |
Digitorenocerebral Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TBC1D24 have been linked to a variety of epileptic syndromes and recently to syndromic hearing impairment DOORS syndrome and nonsyndromic hearing impairment DFNB86.
|
24729547 |
2014 |
Digitorenocerebral Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in another BAF complex gene (SMARCA2) and (TBC1D24) were found to cause clinically similar conditions with ID, Nicolaides-Baraitser syndrome and DOORS syndrome, respectively.
|
25169878 |
2014 |
Digitorenocerebral Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TBC1D24 are described in patients with a spectrum of neurological diseases, including mild and severe epilepsies and complex syndromic phenotypes such as Deafness, Onycodystrophy, Osteodystrophy, Mental Retardation and Seizure (DOORS) syndrome.
|
30858606 |
2019 |