Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
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.
Annesi
Ferdinanda
F
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.
Gambardella
Antonio
A
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.
Michelucci
Roberto
R
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.
Bianchi
Amedeo
A
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.
Marini
Carla
C
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.
Canevini
Maria Paola
MP
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.
Capovilla
Giuseppe
G
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.
Elia
Maurizio
M
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.
Buti
Daniela
D
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.
Chifari
Rosanna
R
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.
Striano
Pasquale
P
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.
Rocca
Francesca E
FE
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.
Castellotti
Barbara
B
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.
Cali
Francesco
F
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.
Labate
Angelo
A
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.
LePiane
Emilio
E
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.
Besana
Dante
D
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.
Sofia
Vito
V
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.
Tabiadon
Giulietta
G
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.
Tortorella
Gaetano
G
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.
Vigliano
Piernanda
P
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.
Vignoli
Aglaia
A
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.
Beccaria
Francesca
F
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.
Annesi
Grazia
G
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.
Striano
Salvatore
S
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.
Aguglia
Umberto
U
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.
Guerrini
Renzo
R
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.
Quattrone
Aldo
A
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.
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
D002135:Calcium-Binding Proteins; C489648:EFHC1 protein, human