Valerio Conti

Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms.

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

A versatile clearing agent for multi-modal brain imaging.

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Genetic Basis of Brain Malformations.

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

Multimodal fiber-probe spectroscopy allows detecting epileptogenic focal cortical dysplasia in children.