Author

Alessandra Tessa

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Open access Oct 2026

A Mild Neurodevelopmental Phenotype Associated with a Novel BRAT1 Variant: Expanding Genotype–Phenotype Correlations

Background: BRAT1-related disorders constitute a continuous neurodevelopmental spectrum ranging from rigidity and multifocal seizure syndrome, lethal neonatal form (RMFSL) to milder phenotypes characterized by cerebellar involvement and variable developmental impairment. Genotype–phenotype correlations remain incomplet...

Camilla Meossi, Lorenzo Cipriano, Flavio Dal Canto et al. · Medical Science · 0 citations

Case report Aug 2026

Expanding the ABCD1 mutation spectrum: a novel variant in X-linked adrenomyeloneuropathy

The first reported case of AMN associated with the novel ABCD1 c.1922G > T (p.Gly641Val) variant is described, expanding the mutational spectrum of X-ALD.

Valentina Barone, A. Borghi, Alessandro Vaisfeld et al. · Neurological Sciences · 0 citations

Case report Aug 2026

Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants

The findings expand the evidence that pathogenic MECP2 variants can produce neurological phenotypes distinct from classic RTT, including mild neurodevelopmental impairment without regression, and predominantly cerebellar or spastic-ataxic manifestations associated with limited cognitive involvement.

Camilla Meossi, Alessandro De Falco, Deianira Rinaldi et al. · Journal of Neurology · 0 citations