Sabrina Buoni

TL;DR: Molecular analysis revealed that Foxg1 might also share common molecular mechanisms with MeCP2 during neuronal development, exhibiting partially overlapping expression domain in postnatal cortex and neuronal subnuclear localization.

TL;DR: Evidence is provided that PTEN germline mutations may sustain a more wide phenotypical spectrum than previously suggested, and three novel de novo missense mutations were found in patients with neurodevelopmental disorders associated with macrocephaly.

TL;DR: Assessment of telomere length in apparently healthy obese and normal‐weight subjects finds that telomeres are shortened in obese subjects while in the normal weight group, but the length of the chromosomes in the obese subjects is unchanged.

TL;DR: Oral betamethasone could be a promising therapy to relieve ataxia symptoms in A‐T patients; however, long‐term effectiveness and safety must be established.

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.