Related references
Note: Only part of the references are listed.Mammalian Target of Rapamycin Pathway Mutations Cause Hemimegalencephaly and Focal Cortical Dysplasia
Alissa M. D'Gama et al.
ANNALS OF NEUROLOGY (2015)
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
Laura A. Jansen et al.
BRAIN (2015)
Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA
Valerie L. Luks et al.
JOURNAL OF PEDIATRICS (2015)
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
Jae Seok Lim et al.
NATURE MEDICINE (2015)
An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development
Seung Tae Baek et al.
NATURE MEDICINE (2015)
Sleep impairment and reduced interneuron excitability in a mouse model of Dravet Syndrome
Franck Kalume et al.
NEUROBIOLOGY OF DISEASE (2015)
Impaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis Complex
Uk Yeol Moon et al.
CELL REPORTS (2015)
Long-term seizure outcome in 211 patients with focal cortical dysplasia
Susanne Fauser et al.
EPILEPSIA (2015)
Activating PIK3CA alleles and lymphangiogenic phenotype of lymphatic endothelial cells isolated from lymphatic malformations
Alexander J. Osborn et al.
HUMAN MOLECULAR GENETICS (2015)
Somatic Mosaicism for the p.His1047Arg Mutation in PIK3CA in a Girl with Mesenteric Lipomatosis
Ana S. A. Cohen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum
Kim M. Keppler-Noreuil et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Layer-specific gene expression in epileptogenic type II focal cortical dysplasia: normal-looking neurons reveal the presence of a hidden laminar organization
Laura Rossini et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2014)
Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP
Ghayda M. Mirzaa et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2013)
Diverse Mechanisms of AKT Pathway Activation in Human Malignancy
Mitchell Cheung et al.
CURRENT CANCER DRUG TARGETS (2013)
mTOR inhibitors as a new therapeutic option for epilepsy
Paolo Curatolo et al.
EXPERT REVIEW OF NEUROTHERAPEUTICS (2013)
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly
Jonathan J. Rios et al.
HUMAN MOLECULAR GENETICS (2013)
Conditional activation of Pik3caH1047R in a knock-in mouse model promotes mammary tumorigenesis and emergence of mutations
W. Yuan et al.
ONCOGENE (2013)
Sudden unexpected death in Dravet syndrome: Respiratory and other physiological dysfunctions
Franck Kalume
RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY (2013)
Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
Kyle C. Kurek et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
Ghayda M. Mirzaa et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: Unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly
Asako Arai et al.
BRAIN RESEARCH (2012)
FGFR3, PIK3CA and RAS mutations in benign lichenoid keratosis
L. Groesser et al.
BRITISH JOURNAL OF DERMATOLOGY (2012)
Pten deletion causes mTorc1-dependent ectopic neuroblast differentiation without causing uniform migration defects
Guo Zhu et al.
DEVELOPMENT (2012)
Pentylenetetrazole-induced seizures cause acute, but not chronic, mTOR pathway activation in rat
Bo Zhang et al.
EPILEPSIA (2012)
An activating Pik3ca mutation coupled with Pten loss is sufficient to initiate ovarian tumorigenesis in mice
Kathryn M. Kinross et al.
JOURNAL OF CLINICAL INVESTIGATION (2012)
Phase I, Dose-Escalation Study of BKM120, an Oral Pan-Class I PI3K Inhibitor, in Patients With Advanced Solid Tumors
Johanna C. Bendell et al.
JOURNAL OF CLINICAL ONCOLOGY (2012)
Identification and Characterization of NVP-BKM120, an Orally Available Pan-Class I PI3-Kinase Inhibitor
Sauveur-Michel Maira et al.
MOLECULAR CANCER THERAPEUTICS (2012)
Characterization of the Mechanism of Action of the Pan Class I PI3K Inhibitor NVP-BKM120 across a Broad Range of Concentrations
Saskia M. Brachmann et al.
MOLECULAR CANCER THERAPEUTICS (2012)
Novel mutations target distinct subgroups of medulloblastoma
Giles Robinson et al.
NATURE (2012)
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA
Marjorie J. Lindhurst et al.
NATURE GENETICS (2012)
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Jean-Baptiste Riviere et al.
NATURE GENETICS (2012)
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
Jeong Ho Lee et al.
NATURE GENETICS (2012)
Luminal Expression of PIK3CA Mutant H1047R in the Mammary Gland Induces Heterogeneous Tumors
Dominique S. Meyer et al.
CANCER RESEARCH (2011)
The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission
Ingmar Bluemcke et al.
EPILEPSIA (2011)
Oncogenic PIK3CA-driven mammary tumors frequently recur via PI3K pathway-dependent and PI3K pathway-independent mechanisms
Pixu Liu et al.
NATURE MEDICINE (2011)
Advances in MRI for 'cryptogenic' epilepsies
Andrea Bernasconi et al.
NATURE REVIEWS NEUROLOGY (2011)
Targeting PI3K signalling in cancer: opportunities, challenges and limitations
Jeffrey A. Engelman
NATURE REVIEWS CANCER (2009)
Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex
Ling-Hui Zeng et al.
ANNALS OF NEUROLOGY (2008)
Integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer
Katherine Stemke-Hale et al.
CANCER RESEARCH (2008)
Tuberous sclerosis: A primary pathology of astrocytes ?
Alexander A. Sosunov et al.
EPILEPSIA (2008)
Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities
M. M. Fraser et al.
NEUROSCIENCE (2008)
Helical domain and kinase domain mutations in p110α of phosphatidylinositol 3-kinase induce gain of function by different mechanisms
Li Zhao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Neuroimaging findings in Macrocephaly-Capillary Malformation: A longitudinal study of 17 patients
Robert L. Conway et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a mutation pattern
Christian Hafner et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Mechanism of two classes of cancer mutations in the phosphoinositide 3-kinase catalytic subunit
Nabil Miled et al.
SCIENCE (2007)
Class IA phosphoinositide 3-kinases are obligate p85-p110 heterodimers
Barbara Geering et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Rare cancer-specific mutations in PIK3CA show gain of function
Marco Gymnopoulos et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Reverse phase protein array: validation of a novel proteomic technology and utility for analysis of primary leukemia specimens and hematopoietic stem cells
Raoul Tibes et al.
MOLECULAR CANCER THERAPEUTICS (2006)
The roof plate regulates cerebellar cell-type specification and proliferation
Victor V. Chizhikov et al.
DEVELOPMENT (2006)
Clinical characteristics in focal cortical dysplasia: a retrospective evaluation in a series of 120 patients
Susanne Fauser et al.
BRAIN (2006)
Contralateral hemimicrencephaly and clinical-pathological correlations in children with hemimegalencephaly
N Salamon et al.
BRAIN (2006)
Focal cortical dysplasia: prevalence, clinical presentation and epilepsy in children and adults
T Bast et al.
ACTA NEUROLOGICA SCANDINAVICA (2006)
Regulation of dendritic morphogenesis by Ras-PI3K-Akt mTOR and Ras-MAPK signaling pathways
V Kumar et al.
JOURNAL OF NEUROSCIENCE (2005)
Exploiting the PI3K/AKT pathway for cancer drug discovery
BT Hennessy et al.
NATURE REVIEWS DRUG DISCOVERY (2005)
Pten loss causes hypertrophy and increased proliferation of astrocytes in vivo
MM Fraser et al.
CANCER RESEARCH (2004)
Clinical outcomes of hemispherectomy for epilepsy in childhood and adolescence
AM Devlin et al.
BRAIN (2003)
Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome
L. Tassi et al.
BRAIN (2002)
Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease
CH Kwon et al.
NATURE GENETICS (2001)
Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease
SA Backman et al.
NATURE GENETICS (2001)
Hypoglycaemia, liver necrosis and perinatal death in mice lacking all isoforms of phosphoinositide 3-kinase p85α
DA Fruman et al.
NATURE GENETICS (2000)