Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
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Somatic mutations in disorders with disrupted brain connectivityAdvancing epilepsy genetics in the genomic eraDeep Blue "Seq": Fishing for Epilepsy Genes.Convulsive seizures from experimental focal cortical dysplasia occur independently of cell misplacement.Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in miceDiagnostic methods and treatment options for focal cortical dysplasiaSomatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.Early rescue of interneuron disease trajectory in developmental epilepsies.2014 Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic Conditions2014 Epilepsy Benchmarks Area III: Improve Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side EffectsAn AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical developmentMutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.Tuberous sclerosis complex as a model disease for developing new therapeutics for epilepsy.Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.GATOR1 complex: the common genetic actor in focal epilepsies.Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.DEPDC5 as a potential therapeutic target for epilepsy.Early lipofuscin accumulation in frontal lobe epilepsy.Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR.Impaired oligodendroglial turnover is associated with myelin pathology in focal cortical dysplasia and tuberous sclerosis complex.Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.Sending Mixed Signals: The Expanding Role of Molecular Cascade Mutations in Malformations of Cortical Development and Epilepsy.Long-term treatment of epilepsy with everolimus in tuberous sclerosis.Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.Targeting the Mammalian Target of Rapamycin for Epileptic Encephalopathies and Malformations of Cortical Development.Cowden Syndrome with a Novel PTEN Mutation Presenting with Partial Epilepsy Related to Focal Cortical Dysplasia.Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.Dysregulation of NEUROG2 plays a key role in focal cortical dysplasia.Identification of somatic mutations in monozygotic twins discordant for psychiatric disorders.The genetic landscape of ganglioglioma.Identification of genes associated with cortical malformation using a transposon-mediated somatic mutagenesis screen in mice.
P2860
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P2860
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
description
2015 nî lūn-bûn
@nan
2015 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
@ast
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
@en
type
label
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
@ast
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
@en
prefLabel
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
@ast
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
@en
P2093
P2860
P50
P356
P1433
P1476
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
@en
P2093
Akiyoshi Kakita
Chihiro Ohba
Hirohide Takebayashi
Hiroki Kitaura
Hiroshi Masuda
Hiroshi Shirozu
Jun Tohyama
Kazuhiro Ogata
Keisuke Watanabe
Masaaki Shiina
P2860
P304
P356
10.1002/ANA.24444
P577
2015-05-27T00:00:00Z