Ilaria Meloni

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: CDKL5 is responsible for a rare variant of Rett syndrome characterised by early development of convulsions, usually of the spasm type, based on the clinical overlap between the Hanefeld variant and West syndrome.

TL;DR: A three-generation family in which two affected males showed severe mental retardation and progressive spasticity and two obligate carrier females showed either normal or borderline intelligence, simulating an X-linked recessive trait are reported, demonstrating that, in males, MECP2 can be responsible for severemental retardation associated with neurological disorders.

TL;DR: The mutation spectrum of COL4A3 andCOL4A4 genes is extended, and a possible relationship between production of abnormal COL IV chains and dominant expression of a continuous spectrum of phenotypes is suggested, from ATS to BFH.

TL;DR: The findings indicate the presence of a redox imbalance and previously unrecognized morphological skin fibroblast abnormalities in RTT patients.