Associated Papers
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Zhang L et al.
Genome Medicine, 2025
Clinical trajectories and medication response in TBC1D24-related epilepsies.
Mondragon E et al.
Epilepsia, 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
39214300 (PubMed )
Supplement: mmc1.docx
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N et al.
Clinical Genetics, 2024
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
Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases.
Zhang N et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021
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
Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations.
Zhang J et al.
Seizure, 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
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.
Ragona F et al.
Seizure, 2017
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