José M. Serratosa

Overview

Best Publications

• Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

  Johannes R Lemke;Dennis Lal;Eva M Reinthaler;Isabelle Steiner

  501
  Citations

• Randomized phase III study 306 Adjunctive perampanel for refractory partial-onset seizures

  G. L. Krauss;J. M. Serratosa;V. Villanueva;M. Endziniene

  498
  Citations

• Mutations in DEPDC5 cause familial focal epilepsy with variable foci

  Leanne M Dibbens;Boukje de Vries;Simona Donatello;Sarah E Heron

  401
  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

• De novo variants in neurodevelopmental disorders with epilepsy.

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

  307
  Citations

• A Novel Protein Tyrosine Phosphatase Gene Is Mutated in Progressive Myoclonus Epilepsy of the Lafora Type (EPM2)

  José M. Serratosa;Pilar Gómez-Garre;Ma Esther Gallardo;Berta Anta

  269
  Citations

• Fever, genes, and epilepsy

  Stéphanie Baulac;Isabelle Gourfinkel-An;Rima Nabbout;Gilles Huberfeld

  268
  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

• Regulation of glycogen synthesis by the laforin–malin complex is modulated by the AMP-activated protein kinase pathway

  Maria del Carmen Solaz-Fuster;José Vicente Gimeno-Alcañiz;Susana Ros;Maria Elena Fernandez-Sanchez

  177
  Citations

• Childhood Absence Epilepsy with Tonic-Clonic Seizures and Electroencephalogram 3–4-Hz Spike and Multispike–Slow Wave Complexes: Linkage to Chromosome 8q24

  G.C.Y. Fong;Pravina U. Shah;Manyee N. Gee;Jose M. Serratosa

  171
  Citations

• Cortical myoclonus in Angelman syndrome.

  R Guerrini;T M De Lorey;P Bonanni;A Moncla

  168
  Citations

• Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy

  Olga Criado;Carmen Aguado;Javier Gayarre;Lara Duran-Trio

  165
  Citations

• Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

  Silvia Masnada;Ulrike B S Hedrich;Elena Gardella;Julian Schubert

  162
  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

• Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait.

  Liu Aw;Delgado-Escueta Av;Serratosa Jm;Alonso Me

  158
  Citations

• Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies

  Katrine Johannesen;Carla Marini;Siona Pfeffer;Rikke S. Møller;Rikke S. Møller

  157
  Citations

• Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation

  Maria Elena Fernández-Sánchez;Olga Criado-García;Karen E. Heath;Belén García-Fojeda

  139
  Citations

• Progress in mapping human epilepsy genes

  Antonio V. Delgado-Escueta;Jose M. Serratosa;Amy Liu;Karen Weissbecker

  135
  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