Margherita Marchi

TL;DR: It is demonstrated that a combined approach – with clinical, functional and structural assessment of small nerve fibres – improves the reliability of diagnosis.

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: Potentially pathogenic VGSC variants are present in 11.6% of patients with pure SFN and genetic screening of SCN9A, SCN10A and SCN11A should be considered in patients withpure SFN, independently of clinical features or underlying conditions.

TL;DR: It is suggested that the pseudoperiodic patterns observed on the EEGs for these cases represent this genetic form of epilepsy, though differing in frequency, voltage, and associated patterns, in agreement with data reported by other authors indicating that no unique pattern can be identified in subjects with CDKL5 mutations.

TL;DR: The data support a potential role of UBE3A in the complex pathogenic mechanisms of autism and provide the first evidence of a significant association between first word delay and psychomotor regression with the 15q11-q13 region.