Associated Papers
Pathophysiological Mechanisms Fostering Developmental and Epileptic Encephalopathies (DEE): a Complex Interplay between Genetics, Inflammation and Neurodegeneration.
Riva A et al.
Current Neurology and Neuroscience Reports, 2025
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
Synaptic genes and neurodevelopmental disorders: From molecular mechanisms to developmental strategies of behavioral testing.
Michetti C et al.
Neurobiology of Disease, 2022
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
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
Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function.
Fischer B et al.
Nature Structural & Molecular Biology, 2016
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
Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.
Stražišar BG et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees.
Bakhchane A et al.
Plos One, 2015
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
TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway.
Falace A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
Rehman AU et al.
American Journal of Human Genetics, 2014
The genetic basis of DOORS syndrome: an exome-sequencing study.
Campeau PM et al.
The Lancet. Neurology, 2014
Recent advances in the molecular genetics of epilepsy.
Hildebrand MS et al.
Journal of Medical Genetics, 2013
TBC1D24 truncating mutation resulting in severe neurodegeneration.
Guven A et al.
Journal of Medical Genetics, 2013
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
Corbett MA et al.
American Journal of Human Genetics, 2010