Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene

Clinical Genetics

Volumn 88, Issue 3, 2015, Pages 241-247

  Conti, V ^a   Pantaleo, M ^a   Barba, C ^a   Baroni, G ^b   Mei, D ^a   Buccoliero, A M ^a   Giglio, S ^a   Giordano, F ^a   Baek, S T ^c   Gleeson, J G ^c   Guerrini, Renzo ^a,d  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

AKT3 duplication; Focal cortical dysplasia; mTOR pathway; Nodular heterotopia

Indexed keywords

MAMMALIAN TARGET OF RAPAMYCIN; PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PHOSPHOINOSITIDE DEPENDENT PROTEIN KINASE 1; PROTEIN KINASE B; PROTEIN S6; AKT3 PROTEIN, HUMAN; MICROSATELLITE DNA;

AKT3 GENE; ALEXANDER DISEASE; ARTICLE; BRAIN TISSUE; CHILD; CHROMOSOME 17; CHROMOSOME 5; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; CORTICAL DYSPLASIA; FEMALE; FRONTAL LOBE; GENE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANTILE SPASM; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SCHOOL CHILD; SOMATIC MUTATION; SYMPTOMATIC EPILEPSY; TRISOMY; BRAIN CORTEX; CHROMOSOME 1; COMPARATIVE GENOMIC HYBRIDIZATION; GENETIC ASSOCIATION STUDY; GENETICS; MALE; METABOLISM; NEWBORN; PATHOLOGY; SPASMS, INFANTILE;

CEREBRAL CORTEX; CHILD; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 1; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MICROSATELLITE REPEATS; PROTO-ONCOGENE PROTEINS C-AKT; SPASMS, INFANTILE;

EID: 84938896860     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12476     Document Type: Article

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