Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication

European Journal of Medical Genetics

Volumn 59, Issue 5, 2016, Pages 278-282

  Milone, Roberta ^a   Valetto, Angelo ^b   Battini, Roberta ^a   Bertini, Veronica ^b   Valvo, Giulia ^a   Cioni, Giovanni ^a,c   Sicca, Federico ^a  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b SANTA CHIARA HOSPITAL   (Italy)

^c UNIVERSITY OF PISA   (Italy)

Author keywords

1q21.1 q21.3 duplication; Epilepsy; Focal cortical dysplasia; Intellectual disability; Microcephaly

Indexed keywords

ARTICLE; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CASE REPORT; CHILD; CHROMOSOME 1Q; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; CORTICAL DYSPLASIA; EPILEPSY; GENE REARRANGEMENT; GENETIC ASSOCIATION; HUMAN; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; MICROCEPHALY; PHENOTYPE; SCHOOL CHILD; BRAIN CORTEX; CHROMOSOME 1; DIAGNOSTIC IMAGING; GENETICS; MALFORMATION OF CORTICAL DEVELOPMENT GROUP I; NEWBORN; PATHOPHYSIOLOGY;

CEREBRAL CORTEX; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 1; COMPARATIVE GENOMIC HYBRIDIZATION; EPILEPSY; HUMANS; INFANT, NEWBORN; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP I; MICROCEPHALY;

EID: 84962586801     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2016.03.003     Document Type: Article

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