Nicola Vanni

Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

P. Striano, F. Zara, C. Minetti, 2013, Epilepsia.

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

P. Striano, P. Bramanti, F. Zara, 2014, Annals of neurology.

Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy

F. Benfenati, F. Zara, R. Nabbout, 2013, Human mutation.

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.

F. Benfenati, P. Striano, F. Zara, 2010, American journal of human genetics.

Do regulatory regions matter in FOXG1 duplications?

P. Striano, F. Zara, A. Falace, 2012, European Journal of Human Genetics.

A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

Marco Seri, Tommaso Pippucci, Paolo Tinuper, 2013, Epilepsia.

Erratum: A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype (Epilepsia (2013) 54 (1298-1306))

G. Cantalupo, I. Naldi, T. Pippucci, 2013 .

Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis.

P. Striano, F. Zara, P. Genton, 2016, Epileptic disorders : international epilepsy journal with videotape.

Familial infantile myoclonic epilepsy

F. Benfenati, P. Striano, F. Zara, 2020, Definitions.