Associated Papers
Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.
Tona R et al.
The Journal of Biological Chemistry, 2024
39214300 (PubMed )
Supplement: mmc1.docx
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
Gao X et al.
Human Genetics, 2022
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
Tona R et al.
Genes, 2020
The epilepsy and intellectual disability-associated protein TBC1D24 regulates the maintenance of excitatory synapses and animal behaviors.
Lin L et al.
Plos Genetics, 2020
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
Tona R et al.
Human Molecular Genetics, 2019
The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.
Finelli MJ et al.
Human Molecular Genetics, 2019
Unresolved questions regarding human hereditary deafness.
Rehman AU et al.
Oral Diseases, 2017
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
Ngoh A et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2017
Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.
Appavu B et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Balestrini S et al.
Neurology, 2016
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
Campeau PM et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Azaiez H et al.
Human Mutation, 2014
The genetic basis of DOORS syndrome: an exome-sequencing study.
Campeau PM et al.
The Lancet. Neurology, 2014
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