Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

Annals of Clinical and Translational Neurology

Volumn , Issue , 2015, Pages 575-580

  Scerri, Thomas ^a   Riseley, Jessica R ^b   Gillies, Greta ^b   Pope, Kate ^b   Burgess, Rosemary ^c,d   Mandelstam, Simone A ^c,d,e   Dibbens, Leanne ^f   Chow, Chung W ^d,e   Maixner, Wirginia ^b,e   Harvey, Anthony Simon ^b,c,d,e   Jackson, Graeme D ^c,d   Amor, David J ^b,d   Delatycki, Martin B ^b,d,g   Crino, Peter B ^h   Berkovic, Samuel F ^c,d   Scheffer, Ingrid E ^c,d,e   Bahlo, Melanie ^a   Lockhart, Paul J ^b,d   Leventer, Richard J ^b,d,e  

^a WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e ROYAL CHILDREN'S HOSPITAL   (Australia)

^f UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

^g AUSTIN HEALTH   (Australia)

^h TEMPLE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MAMMALIAN TARGET OF RAPAMYCIN;

ARTICLE; BRAIN MALFORMATION; CASE REPORT; CLONIC SEIZURE; CORTICAL DYSPLASIA; DEPDC5 GENE; DNA ISOLATION; ELECTROENCEPHALOGRAM; FOCAL EPILEPSY; FUNCTIONAL NEUROIMAGING; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GERMLINE MUTATION; HEMISPHERECTOMY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84946721624     PISSN: None     EISSN: 23289503     Source Type: Journal    
DOI: 10.1002/acn3.191     Document Type: Article

References (20)

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