Federico Zara

Overview

Best Publications

• Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

  Victoria Campuzano;Laura Montermini;Maria Dolores Moltò;Luigi Pianese

  3342
  Citations

• Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

  Carlo Minetti;Federica Sotgia;Claudio Bruno;Claudio Bruno;Paolo Scartezzini

  757
  Citations

• Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

  Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada

  570
  Citations

• The genetics of Dravet syndrome

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

  393
  Citations

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

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

  361
  Citations

• Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

  Rima Nabbout;E. Gennaro;B. Dalla Bernardina;O. Dulac

  325
  Citations

• The phenotypic spectrum of SCN8A encephalopathy

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

  300
  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

• Genetic testing in the epilepsies--report of the ILAE Genetics Commission.

  Ruth Ottman;Shinichi Hirose;Satish Jain;Holger Lerche

  244
  Citations

• Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

  Gemma L. Carvill;Jacinta M. McMahon;Amy Schneider;Matthew Zemel

  237
  Citations

• Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

  I. Carbone;C. Bruno;F. Sotgia;M. Bado

  206
  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

• Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

  Dalia Kasperavičiūtė;Claudia B. Catarino;Claudia B. Catarino;Mar Matarin;Costin Leu

  195
  Citations

• TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

  Antonio Falace;Fabia Filipello;Veronica La Padula;Nicola Vanni

  173
  Citations

• Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

  Michael Steffens;Costin Leu

  161
  Citations

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

  Federico Zara;Nicola Specchio;Pasquale Striano;Angela Robbiano

  150
  Citations

• An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy.

  P. Striano;A. Coppola;M. Pezzella;C. Ciampa

  148
  Citations

• Mapping of genes predisposing to idiopathic generalized epilepsy

  F Zara;A Bianchi;G Avanzini;S di Donato

  148
  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