Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations

Epilepsia

Volumn 45, Issue 2, 2004, Pages 149-158

  Bonanni, Paolo ^a   Malcarne, Michela ^c   Moro, Francesca ^a   Veggiotti, Pierangelo ^d   Buti, Daniela ^e   Ferrari, Anna Rita ^a   Parrini, Elena ^a   Mei, Davide ^a   Volzone, Anna ^a   Zara, Federico ^f   Heron, Sarah E ^g   Bordo, Laura ^f   Marini, Carla ^a   Guerrini, Renzo ^a,b  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b UNIVERSITY OF PISA   (Italy)

^c GALLIERA HOSPITAL   (Italy)

^d C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^e UNIVERSITY OF FLORENCE   (Italy)

^f UNIVERSITY OF GENOA   (Italy)

^g WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

Epilepsy; GABRG2; GEFS+; Mutation analysis; SCN1A; SCN1B; SCN2A

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; GAMMA2 SUBUNIT, GABA A RECEPTOR; GAMMA2 SUBUNIT, GABA-A RECEPTOR; NERVE PROTEIN; SCN1A PROTEIN; SCN1B PROTEIN, HUMAN; SCN2A PROTEIN; SODIUM CHANNEL; UNCLASSIFIED DRUG;

ABSENCE; ADOLESCENT; ADULT; CHILD; FAMILY HEALTH; FAMILY STUDY; FEBRILE CONVULSION; FEMALE; FOCAL EPILEPSY; GABRG2 GENE; GENE; GENERALIZED EPILEPSY; GENETICS; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVIEW; SCN1A GENE; SCN1B GENE; SYNDROME DELINEATION;

ADOLESCENT; ADULT; CHILD; EPILEPSIES, PARTIAL; EPILEPSY, ABSENCE; EPILEPSY, GENERALIZED; FAMILY HEALTH; FEMALE; HUMANS; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RECEPTORS, GABA-A; SEIZURES, FEBRILE; SODIUM CHANNELS;

EID: 10744220869     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0013-9580.2004.04303.x     Document Type: Review

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