title: Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
abstract: OBJECTIVE
  Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene.
  
  
  METHODS
  Twenty-seven families (86 affected individuals, 52 women) with at least two affected members with JME were selected. DNA was isolated from peripheral blood lymphocytes by standard methods and each exon of the EFHC1 gene was amplified and sequenced using intronic primers.
  
  
  RESULTS
  Two heterozygous mutations were identified in three unrelated families. One (R353 W) was a novel missense mutation, while the F229 L mutation was previously described (say which on of the two occurred in two families). Both mutations cosegregated with the disease. In a fourth family, the variant 545G-->A (resulting in the amino acid substitution R182 H) cosegregated with JME.
  
  
  CONCLUSIONS
  The results of our study extend the distribution of EFHC1 mutations to the white population and confirm the high level of genetic heterogeneity associated with JME.
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Ferdinanda
authors.initials: F
authors.lastname: Annesi
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Gambardella
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Michelucci
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Amedeo
authors.initials: A
authors.lastname: Bianchi
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Marini
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Canevini
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Capovilla
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Elia
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Buti
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Rosanna
authors.initials: R
authors.lastname: Chifari
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Francesca E
authors.initials: FE
authors.lastname: Rocca
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Castellotti
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Cali
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Labate
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Emilio
authors.initials: E
authors.lastname: LePiane
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Dante
authors.initials: D
authors.lastname: Besana
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Vito
authors.initials: V
authors.lastname: Sofia
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Giulietta
authors.initials: G
authors.lastname: Tabiadon
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Gaetano
authors.initials: G
authors.lastname: Tortorella
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Piernanda
authors.initials: P
authors.lastname: Vigliano
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Aglaia
authors.initials: A
authors.lastname: Vignoli
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Beccaria
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Grazia
authors.initials: G
authors.lastname: Annesi
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Striano
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Umberto
authors.initials: U
authors.lastname: Aguglia
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Renzo
authors.initials: R
authors.lastname: Guerrini
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000328:Adult; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D018740:Genetic Heterogeneity; D005820:Genetic Testing; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D020190:Myoclonic Epilepsy, Juvenile / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D044465:White People / Q000235:genetics
chemical_list: D002135:Calcium-Binding Proteins; C489648:EFHC1 protein, human