Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations

Epilepsia

Volumn 52, Issue 7, 2011, Pages 1251-1257

  Specchio, Nicola ^a   Marini, Carla ^b   Terracciano, Alessandra ^a   Mei, Davide ^b   Trivisano, Marina ^c   Sicca, Federico ^d   Fusco, Lucia ^a   Cusmai, Raffaella ^a   Darra, Francesca ^e   Bernardina, Bernardo Dalla ^e   Bertini, Enrico ^a   Guerrini, Renzo ^b   Vigevano, Federico ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c UNIVERSITY OF FOGGIA   (Italy)

^d DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^e UNIVERSITY OF VERONA   (Italy)

Author keywords

Dravet syndrome; Early childhood epilepsy; Febrile seizures; Focal seizures; Generalized seizures; Genetics; Infantile epilepsy; Protocadherin 19

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTISM; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; EXON; FEBRILE CONVULSION; FEMALE; FOCAL EPILEPSY; FOLLOW UP; FRAMESHIFT MUTATION; GENE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GRAND MAL SEIZURE; HUMAN; MISSENSE MUTATION; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTOCADHERIN 19 GENE; SCHOOL CHILD; TEMPORAL LOBE EPILEPSY;

AGE OF ONSET; BRAIN; CADHERINS; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT; MUTATION, MISSENSE; PHENOTYPE; SEIZURES;

EID: 79959955178     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2011.03063.x     Document Type: Article

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