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
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review.
Cordani R et al.
Neuropediatrics, 2022
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
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
TBC1D24 gene mutations are associated with high risk of sudden unexpected death.
Trivisano M et al.
Epilepsy & Behavior : E&b, 2017
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