Marini, Carla

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Dimova, P., Djémié, T., et al. (2014) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 439

Distinguishing Sleep Disorders From Seizures: Diagnosing Bumps in the Night

Derry, C. P., Davey, M., Johns, M., Kron, K., Glencross, D., Marini, C., Scheffer, I. E., & Berkovic, S. F. (2006) · Archives of Neurology

Epilepsy research and treatmentSleep and related disorders

Cited by 223

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Suls, A., Jaehn, J. A., Kecskés, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djémié, T., Afrikanova, T., Gormley, P., et al. (2013) · The American Journal of Human Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 219

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., et al. (2022) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 147

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Burgess, R., Wang, S., McTague, A., Boysen, K. E., Yang, X., Zeng, Q., Myers, K. A., Rochtus, A., Trivisano, M., Gill, D., et al. (2019) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 141

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

Mullen, S. A., Marini, C., Suls, A., Mei, D., Della Giustina, E., Buti, D., Arsov, T., Damiano, J., Lawrence, K., De Jonghe, P., et al. (2011) · Archives of Neurology

Epilepsy research and treatmentGlycogen Storage Diseases and Myoclonus

Cited by 138

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Thomas, R. H., Zhang, L. M., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S., Mefford, H. C., et al. (2015) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 100

Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies

Balestrini, S., Chiarello, D., Gogou, M., Silvennoinen, K., Puvirajasinghe, C., Jones, W. D., Reif, P., Klein, K. M., Rosenow, F., Weber, Y. G., et al. (2021) · Journal of Neurology, Neurosurgery & Psychiatry

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 49

Clinical and genetic study of a family with a paternally inherited 15q11–q13 duplication

Marini, C., Cecconi, A., Contini, E., Pantaleo, M., Metitieri, T., Guarducci, S., Giglio, S., Guerrini, R., & Genuardi, M. (2013) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 26

A registry for Dravet syndrome: The Italian experience

Balestrini, S., Doccini, V., Giometto, S., Lucenteforte, E., De Masi, S., Giarola, E., Brambilla, I., Pieroni, F., Perulli, M., Battaglia, D., et al. (2023) · Epilepsia Open

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 21

What is the role of next generation sequencing in status epilepticus?

Guerrini, R., Parrini, E., Marini, C., & Mei, D. (2019) · Epilepsy & Behavior

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 11