Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder
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STRAD pseudokinases regulate axogenesis and LKB1 stabilityPathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studiesA clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment.mTOR signaling in epilepsy: insights from malformations of cortical developmentImpaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis ComplexClemizole and modulators of serotonin signalling suppress seizures in Dravet syndrome.From Molecular Circuit Dysfunction to Disease: Case Studies in Epilepsy, Traumatic Brain Injury, and Alzheimer's Disease.A roadmap for precision medicine in the epilepsies.Early rescue of interneuron disease trajectory in developmental epilepsies.Epileptic spasms are a feature of DEPDC5 mTORopathy.Normalizing translation through 4E-BP prevents mTOR-driven cortical mislamination and ameliorates aberrant neuron integration.A critical review of mTOR inhibitors and epilepsy: from basic science to clinical trials.Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES).Pathogenetic mechanisms of focal cortical dysplasia.mTOR inhibition in epilepsy: rationale and clinical perspectives.Genetic animal models of malformations of cortical development and epilepsy.mTOR in Brain Physiology and Pathologies.Inflammation in Epileptic Encephalopathies.Tuberous sclerosis complex as a model disease for developing new therapeutics for epilepsy.Proteomic Analysis After Status Epilepticus Identifies UCHL1 as Protective Against Hippocampal Injury.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.DEPDC5 as a potential therapeutic target for epilepsy.Commentary: mTOR inhibition suppresses established epilepsy in a mouse model of cortical dysplasia.Rational therapy from bench to bedside for a rare epilepsySending 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.Everolimus treatment of refractory epilepsy in tuberous sclerosis complex.mTOR-Dependent Cell Proliferation in the Brain.Re-positioning of somatic Golgi apparatus is essential for the dendritic establishment of adult-born hippocampal neurons.Targeting the Mammalian Target of Rapamycin for Epileptic Encephalopathies and Malformations of Cortical Development.Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.Increasing Cancer Screening Among Old Order Anabaptist Women Through Specialized Women's Health and Integrated Cancer Screening Interventions.Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).Seizures in Tuberous Sclerosis: Mechanism-Based Interventions EXIST.Sleep Related Epilepsy and Pharmacotherapy: An Insight
P2860
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P2860
Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder
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2013 nî lūn-bûn
@nan
2013 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Rapamycin prevents seizures af ...... re neurodevelopmental disorder
@ast
Rapamycin prevents seizures af ...... re neurodevelopmental disorder
@en
type
label
Rapamycin prevents seizures af ...... re neurodevelopmental disorder
@ast
Rapamycin prevents seizures af ...... re neurodevelopmental disorder
@en
prefLabel
Rapamycin prevents seizures af ...... re neurodevelopmental disorder
@ast
Rapamycin prevents seizures af ...... re neurodevelopmental disorder
@en
P2093
P2860
P1476
Rapamycin prevents seizures af ...... re neurodevelopmental disorder
@en
P2093
Dmitry A Goncharov
Jacqueline F Birnbaum
Jelte Helfferich
Kei Okochi
Kevin A Strauss
Ksenia A Orlova
Marianna Baybis
Peter B Crino
Vera P Krymskaya
Whitney E Parker
P2860
P304
P356
10.1126/SCITRANSLMED.3005271
P407
P577
2013-04-01T00:00:00Z