A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24

American Journal of Human Genetics

Volumn 87, Issue 3, 2010, Pages 371-375

  Corbett, Mark A ^a   Bahlo, Melanie ^b   Jolly, Lachlan ^a   Afawi, Zaid ^c   Gardner, Alison E ^d   Oliver, Karen L ^e   Tan, Stanley ^a,f   Coffey, Amy ^a   Mulley, John C ^a,f,g   Dibbens, Leanne M ^a,f   Simri, Walid ^h   Shalata, Adel ⁱ   Kivity, Sara ^j   Jackson, Graeme D ^k   Berkovic, Samuel F ^e   Gecz, Jozef ^a,d,f,g  

^a Genetics and Molecular Pathology   (Australia)

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

^c TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^d Women's and Children's Health Research Institute   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f UNIVERSITY OF ADELAIDE   (Australia)

^g UNIVERSITY OF ADELAIDE   (Australia)

^h WESTERN GALILEE HOSPITAL   (Israel)

ⁱ Ginatuna Association   (Israel)

^j SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

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

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Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; PROTEIN TBC 1D24; UNCLASSIFIED DRUG; CARRIER PROTEIN; TBC1D24 PROTEIN, HUMAN; TBC1D24 PROTEIN, MOUSE;

AMINO ACID SEQUENCE; ARTICLE; FOCAL EPILEPSY; GENE MUTATION; GENE SEQUENCE; HUMAN; INTELLECTUAL DISABILITY SYNDROME; INTELLECTUAL IMPAIRMENT; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; ANIMAL; CELL SHAPE; CHEMISTRY; CHROMOSOME MAP; COMPLICATION; FEMALE; GENETICS; INFANT; MALE; METABOLISM; MOLECULAR GENETICS; MOUSE; MUTATION; NERVE CELL; NERVE FIBER; OPEN READING FRAME; PATHOLOGY; PEDIGREE; SYNDROME;

AMINO ACID SEQUENCE; ANIMALS; AXONS; CARRIER PROTEINS; CELL SHAPE; CHROMOSOME MAPPING; EPILEPSIES, PARTIAL; FEMALE; GTPASE-ACTIVATING PROTEINS; HUMANS; INFANT; MALE; MENTAL RETARDATION; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NEURONS; OPEN READING FRAMES; PEDIGREE; SYNDROME; INTELLECTUAL DISABILITY;

EID: 77956394126     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.08.001     Document Type: Article

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