TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features
(2016)
Journal Article
Balestrini, S., Milh, M., Castiglioni, C., Lüthy, K., Verstreken, P., Cardon, A., …Sisodiya, S. (2016). TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features. Neurology, 87(1), 77-85. https://doi.org/10.1212/wnl.0000000000002807
Objective: To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
Methods: We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various...
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