Ballestrini, Simona; Mathieu, Milh; Castiglioni, Claudia; Lüthy, Kevin; Finelli, Mattea; Verstreken, Patrik; Cardon, Aaron; Gnidovec, Barbara; Holder, Lloyd; Lesca, Gaetan; Mancardi, María; Poulat, Anne; Repetto, Gabriela; et al.
(Lippincott Williams & Wilkins, 2016)
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, ...