Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Clinical trajectories and medication response in TBC1D24-related epilepsies.
Mondragon E et al.
Epilepsia, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
A retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0-12 years aged children at a single tertiary care hospital in South India.
Murthy MC et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
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
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
Vetri L et al.
International Journal of Molecular Sciences, 2024
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review.
Cordani R et al.
Neuropediatrics, 2022
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.
Oziębło D et al.
Scientific Reports, 2021
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16.
Salemi M et al.
Acta Neurologica Belgica, 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
Unresolved questions regarding human hereditary deafness.
Rehman AU et al.
Oral Diseases, 2017
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.
Ragona F et al.
Seizure, 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
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
de Kovel CG et al.
Molecular Genetics & Genomic Medicine, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Balestrini S et al.
Neurology, 2016
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.
Poulat AL et al.
Epilepsy Research, 2015
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees.
Bakhchane A et al.
Plos One, 2015
The genetic basis of DOORS syndrome: an exome-sequencing study.
Campeau PM et al.
The Lancet. Neurology, 2014
A Rare Cause of Paroxysmal Movement Disorder Associated with TBC1D24 Gene Mutation in Two Siblings.
Sarıgecılı E et al.
Annals of Indian Academy of Neurology, 0