Related references
Note: Only part of the references are listed.Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy
Theo Ribierre et al.
JOURNAL OF CLINICAL INVESTIGATION (2018)
Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
Michael S. Hildebrand et al.
NEUROLOGY-GENETICS (2018)
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Ashley P. L. Marsh et al.
NATURE GENETICS (2017)
The genomic landscape of tuberous sclerosis complex
Katie R. Martin et al.
NATURE COMMUNICATIONS (2017)
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia
Jae Seok Lim et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Familial Cortical Dysplasia Caused by Mutation in the Mammalian Target of Rapamycin Regulator NPRL3
Joe C. Sim et al.
ANNALS OF NEUROLOGY (2016)
Mutations in the Mammalian Target of Rapamycin Pathway Regulators NPRL2 and NPRL3 Cause Focal Epilepsy
Michael G. Ricos et al.
ANNALS OF NEUROLOGY (2016)
Centre of epileptogenic tubers generate and propagate seizures in tuberous sclerosis
Lakshminarayanan Kannan et al.
BRAIN (2016)
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism
Ghayda M. Mirzaa et al.
JAMA NEUROLOGY (2016)
Familial Focal Epilepsy with Focal Cortical Dysplasia Due to DEPDC5 Mutations
Stephanie Baulac et al.
ANNALS OF NEUROLOGY (2015)
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
Jae Seok Lim et al.
NATURE MEDICINE (2015)
Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR
R. J. Leventer et al.
NEUROLOGY (2015)
Rapid Intraoperative Molecular Characterization of Glioma
Ganesh M. Shankar et al.
JAMA ONCOLOGY (2015)
Epileptic spasms are a feature of DEPDC5 mTORopathy
Gemma L. Carvill et al.
NEUROLOGY-GENETICS (2015)
Mutations in Mammalian Target of Rapamycin Regulator DEPDC5 Cause Focal Epilepsy with Brain Malformations
Ingrid E. Scheffer et al.
ANNALS OF NEUROLOGY (2014)
Somatic Mutation, Genomic Variation, and Neurological Disease
Annapurna Poduri et al.
SCIENCE (2013)
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
Jeong Ho Lee et al.
NATURE GENETICS (2012)
Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations
Annapurna Poduri et al.
NEURON (2012)
Neuropathological work-up of focal cortical dysplasias using the new ILAE consensus classification system - practical guideline article invited by the Euro-CNS Research Committee
I. Bluemcke et al.
CLINICAL NEUROPATHOLOGY (2011)
Are cytomegalic neurons and balloon cells generators of epileptic activity in pediatric cortical dysplasia?
C Cepeda et al.
EPILEPSIA (2005)
mTOR cascade activation distinguishes tubers from focal cortical dysplasia
M Baybis et al.
ANNALS OF NEUROLOGY (2004)
Share Paper
