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
39214300 (PubMed )
Supplement: mmc1.docx
Oral Baclofen Therapy for Multifocal Spinal Myoclonus with TBC1D24 Variant.
Murofushi Y et al.
Movement Disorders Clinical Practice, 2023
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 genotype-phenotype correlation: Epilepsies and other neurologic features.
Balestrini S et al.
Neurology, 2016
27281533 (PubMed )
Supplement: supp_WNL.0000000000002807_707513_Supplemental_data_amended.docx
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