Associated Papers
Clinical trajectories and medication response in TBC1D24-related epilepsies.
Mondragon E et al.
Epilepsia, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 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
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
Crystal structure of the TLDc domain of human NCOA7-AS.
Arnaud-Arnould M et al.
Acta Crystallographica. Section F, Structural Biology Communications, 2021
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16.
Salemi M et al.
Acta Neurologica Belgica, 2020
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
Lüthy K et al.
Brain : a Journal of Neurology, 2019
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
Novel TBC1D24 Mutations in a Case of Nonconvulsive Status Epilepticus.
Li J et al.
Frontiers in Neurology, 2018
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
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 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
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
Lack of pathogenic mutations in six patients with MMPSI.
De Filippo MR et al.
Epilepsy Research, 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
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.
Milh M et al.
Human Mutation, 2013