Carla Marini

Overview

Best Publications

• Mutant GABA A receptor γ2-subunit in childhood absence epilepsy and febrile seizures

  Robyn H. Wallace;Carla Marini;Steven Petrou;Louise A. Harkin;Louise A. Harkin

  1007
  Citations

• The genetics of Dravet syndrome

  Carla Marini;Ingrid E. Scheffer;Ingrid E. Scheffer;Rima Nabbout;Arvid Suls

  393
  Citations

• Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

  E. Parrini;A. Ramazzotti;W. B. Dobyns;D. Mei

  374
  Citations

• Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.

  Samuel F. Berkovic;Sarah E. Heron;Lucio Giordano;Carla Marini

  361
  Citations

• De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

  Steffen Syrbe;Ulrike B.S. Hedrich;Erik Riesch;Tania Djémié

  337
  Citations

• Definition and diagnostic criteria of sleep-related hypermotor epilepsy

  Paolo Tinuper;Francesca Bisulli;J H Cross;Dale Hesdorffer

  332
  Citations

• De novo variants in neurodevelopmental disorders with epilepsy.

  Henrike O. Heyne;Tarjinder Singh;Tarjinder Singh;Hannah Stamberger;Rami Abou Jamra

  307
  Citations

• The phenotypic spectrum of SCN8A encephalopathy

  Jan Larsen;Gemma L Carvill;Elena Gardella;Gerhard Kluger

  300
  Citations

• Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear

  Paolo Aridon;Carla Marini;Chiara Di Resta;Elisa Brilli

  291
  Citations

• Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.

  Richard J. Leventer;Anna Jansen;Daniela T. Pilz;Neil Stoodley

  283
  Citations

• Early and effective treatment of KCNQ2 encephalopathy

  Tiziana Pisano;Adam L. Numis;Sinéad B. Heavin;Sarah Weckhuysen

  273
  Citations

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

  Arvid Suls;Johanna A. Jaehn;Angela Kecskés;Yvonne Weber

  263
  Citations

• De novo mutations in HCN1 cause early infantile epileptic encephalopathy

  Caroline Nava;Carine Dalle;Agnès Rastetter;Pasquale Striano

  262
  Citations

• Ictal bradycardia in partial epileptic seizures: Autonomic investigation in three cases and literature review.

  Paolo Tinuper;F. Bisulli;A. Cerullo;R. Carcangiu

  252
  Citations

• Extending the KCNQ2 encephalopathy spectrum Clinical and neuroimaging findings in 17 patients

  S Weckhuysen;Ivanovic;R Hendrickx;Van, Coster, R

  250
  Citations

• Distinguishing Sleep Disorders From Seizures: Diagnosing Bumps in the Night

  Christopher Paul Derry;Margot Davey;Murray Johns;Katie Kron

  250
  Citations

• Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities

  Carla Marini;Davide Mei;Teresa Temudo;Anna Rita Ferrari

  231
  Citations

• Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation

  Carla Marini;Louise A Harkin;Robyn H Wallace;John C Mulley

  218
  Citations

• SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

  Carla Marini;Ingrid E. Scheffer;Ingrid E. Scheffer;Rima Nabbout;Davide Mei

  197
  Citations

• Genetic malformations of cortical development

  Renzo Guerrini;Carla Marini

  193
  Citations

• Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

  Silke Appenzeller;Rudi Balling;Nina Barisic;Stéphanie Baulac

  33
  Citations