Elena Parrini

Neuronal migration disorders.

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

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.

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

The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.

Genetic Basis of Brain Malformations.

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.