×
Entrez Id:
57465
Gene Symbol:
TBC1D24
TBC1D24
0.110
GeneticVariation
group
BEFREE
We propose that the TBC1D24 /Sky TLDc domain is a reactive oxygen species sensor mediating synaptic vesicle trafficking rates that, when dysfunctional, causes a movement disorder in patients and flies.
31257402
2019
×
Entrez Id:
57465
Gene Symbol:
TBC1D24
TBC1D24
0.110
CausalMutation
group
CLINVAR
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.
28663785
2017
×
Entrez Id:
57465
Gene Symbol:
TBC1D24
TBC1D24
0.110
CausalMutation
group
CLINVAR
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
28428906
2017
×
Entrez Id:
57465
Gene Symbol:
TBC1D24
TBC1D24
0.110
CausalMutation
group
CLINVAR
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.
28292732
2017
×
Entrez Id:
57465
Gene Symbol:
TBC1D24
TBC1D24
0.110
CausalMutation
group
CLINVAR
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.
27541164
2016
×
Entrez Id:
57465
Gene Symbol:
TBC1D24
TBC1D24
0.110
CausalMutation
group
CLINVAR
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
27281533
2016
×
Entrez Id:
57465
Gene Symbol:
TBC1D24
TBC1D24
0.110
CausalMutation
group
CLINVAR
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.
25769375
2015
×
Entrez Id:
57465
Gene Symbol:
TBC1D24
TBC1D24
0.110
CausalMutation
group
CLINVAR
A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.
26207815
2015
×
Entrez Id:
57465
Gene Symbol:
TBC1D24
TBC1D24
0.110
CausalMutation
group
CLINVAR
The genetic basis of DOORS syndrome: an exome-sequencing study.
24291220
2014
×
Entrez Id:
57465
Gene Symbol:
TBC1D24
TBC1D24
0.110
CausalMutation
group
CLINVAR
TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway.
24469796
2014
×
Entrez Id:
57465
Gene Symbol:
TBC1D24
TBC1D24
0.110
CausalMutation
group
CLINVAR
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
24387994
2014
×
Entrez Id:
57465
Gene Symbol:
TBC1D24
TBC1D24
0.110
CausalMutation
group
CLINVAR
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
25169651
2014