Francesca Cogliati

TL;DR: It is shown that RAB39B, a novel RAB GTPase of unknown function, is a neuronal-specific protein that is localized to the Golgi compartment and its downregulation leads to an alteration in the number and morphology of neurite growth cones and a significant reduction in presynaptic buttons, suggesting that R AB39B is required for synapse formation and maintenance.

TL;DR: Both uncontrolled epilepsy and developmental compromise contribute to the profound impairment during early childhood, but stabilization occurs in late childhood, suggesting a global progressive brain dysfunction primarily affecting the temporo-occipital regions.

TL;DR: E evaluation of the behaviour domain suggested that repetitive sensory and motor behaviours correlate with a low developmental profile rather than being specific to autism, and classification of co-morbid AD/ASD vs the classification of less affected bASD.

TL;DR: The mutational repertoire of the CDKL5 gene is shown to be expanded by testing patients with phenotypical overlap to Rett syndrome and applying multiplex ligation-dependent probe amplification, reinforcing the view that a more severe phenotype is due more to an altered protein than haploinsufficiency.

TL;DR: The findings demonstrate that epilepsy differs among the various phenotypes and genotypes with respect to age at onset, drug responsiveness, and seizure semiology, and another important finding is that seizure onset before 1 year of age and daily frequency are risk factors for drug resistance.