Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR

Neurology

Volumn 84, Issue 20, 2015, Pages 2029-2032

  Leventer, Richard J ^a,c,f   Scerri, Thomas ^d   Marsh, Ashley P L ^e   Pope, Kate ^e   Gillies, Greta ^e   Maixner, Wirginia ^b   MacGregor, Duncan ^b   Harvey, A Simon ^a,c,e   Delatycki, Martin B ^c,e,g   Amor, David J ^c,e   Crino, Peter ^h   Bahlo, Melanie ^d   Lockhart, Paul J ^c,e  

^a Departments of Neurology   (United States)

^b Anatomical Pathology   (United States)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

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

^f MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^g AUSTIN HEALTH   (Australia)

^h TEMPLE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; DNA; GENOMIC DNA; GLYCINE; MAMMALIAN TARGET OF RAPAMYCIN; PHENYLALANINE; THREONINE; MTOR PROTEIN, HUMAN; TARGET OF RAPAMYCIN KINASE;

AMINO ACID SUBSTITUTION; ANTICONVULSANT THERAPY; ARTICLE; BIOINFORMATICS; BLOOD SAMPLING; BRAIN TISSUE; CASE REPORT; CONTROLLED STUDY; CORTICAL DYSPLASIA; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; EXOME; FOCAL CORTICAL DYSPLASIA TYPE IIA; GENE FREQUENCY; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HEMIPARESIS; HEMISPHERE; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; INTRACTABLE EPILEPSY; LEUKOCYTE; LYMPHOCYTE; MALE; MISSENSE MUTATION; MOSAICISM; NERVE CELL; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROSURGERY; NUCLEAR MAGNETIC RESONANCE IMAGING; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; SOMATIC MUTATION; TONIC SEIZURE; WHOLE EXOME SEQUENCING; BRAIN; COMPLICATION; EPILEPSY; GENETICS; PATHOLOGY;

BRAIN; EPILEPSY; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MUTATION, MISSENSE; NEURONS; POSITRON-EMISSION TOMOGRAPHY; TOR SERINE-THREONINE KINASES;

EID: 84929629728     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001594     Document Type: Article

References (11)

1. Blumcke I, Thom M, Aronica E, et al. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia 2011;52: 158-174.
2. Chen J, Tsai V, Parker WE, Aronica E, Baybis M, Crino PB. Detection of human papillomavirus in human focal cortical dysplasia type IIB. Ann Neurol 2012;72:881-892.
3. Leventer RJ, Jansen FE, Mandelstam SA, et al. Is focal cortical dysplasia sporadic Family evidence for genetic susceptibility. Epilepsia 2014;55:e22-e26.
4. Crino PB. mTOR: a pathogenic signaling pathway in developmental brain malformations. Trends Mol Med 2011;17:734-742.
5. Lee JH, Huynh M, Silhavy JL, et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 2012;44: 941-945.
6. Scheffer IE, Heron SE, Regan BM, et al. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol 2014;75:782-787.
7. Grabiner BC, Nardi V, Birsoy K, et al. A diverse array of cancer-associated MTOR mutations are hyperactivating and can predict rapamycin sensitivity. Cancer Discov 2014;4:554-563.
8. Peterson TR, Laplante M, Thoreen CC, et al. DEPTOR is an mTOR inhibitor frequently overexpressed in multiple myeloma cells and required for their survival. Cell 2009; 137:873-886.
9. Murugan AK, Alzahrani A, Xing M. Mutations in critical domains confer the human mTOR gene strong tumorigenicity. J Biol Chem 2013;288:6511-6521.
10. Riviere JB, Mirzaa GM, O'Roak BJ, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 2012;44:934-940.
11. Jamuar SS, Lam AT, Kircher M, et al. Somatic mutations in cerebral cortical malformations. N Engl J Med 2014; 371:733-743.