Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy.

No abstract is available for this paper.

• Publication year

  2015

• Venue

  Pediatric Neurology

• Publication date

  2015-03-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/j.pediatrneurol.2014.10.028PMID 25591831
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  2014influential reference
• Fetal brain mTOR signaling activation in tuberous sclerosis complex.

  2014cited by this paper
• Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex.

  2014cited by this paper
• Is mTOR inhibition a systemic treatment for tuberous sclerosis?

  2013cited by this paper
• Excitatory/inhibitory synaptic imbalance leads to hippocampal hyperexcitability in mouse models of tuberous sclerosis.

  2013cited by this paper
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  2013cited by this paper
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  2013cited by this paper
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  2013cited by this paper
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  2013cited by this paper
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  2013cited by this paper
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  2013cited by this paper
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  2013cited by this paper
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  2013cited by this paper
• Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.

  2013cited by this paper
• A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits

  2013cited by this paper
• Everolimus long-term safety and efficacy in subependymal giant cell astrocytoma

  2013influential reference
• Everolimus treatment of refractory epilepsy in tuberous sclerosis complex

  2013cited by this paper
• Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis

  2012cited by this paper
• Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations.

  2012cited by this paper
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  2012cited by this paper
• Postnatal neurogenesis generates heterotopias, olfactory micronodules and cortical infiltration following single-cell Tsc1 deletion.

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• Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex.

  2011cited by this paper
• Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice.

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• Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex.

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  2011cited by this paper
• Treatment of Infantile Spasms

  2011cited by this paper
• Tuberous Sclerosis Complex: Neurological, Renal and Pulmonary Manifestations

  2010cited by this paper
• Efficacy of dietary treatments for epilepsy.

  2010cited by this paper
• Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis.

  2010cited by this paper
• Vagus nerve stimulation for refractory epilepsy in tuberous sclerosis.

  2010cited by this paper
• Early control of seizures improves long-term outcome in children with tuberous sclerosis complex.

  2010cited by this paper
• Refractory epilepsy in tuberous sclerosis: vagus nerve stimulation with or without subsequent resective surgery.

  2009cited by this paper
• Rapamycin Reduces Seizure Frequency in Tuberous Sclerosis Complex

  2009cited by this paper
• Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse

  2009cited by this paper
• The natural history of epilepsy in tuberous sclerosis complex

  2009cited by this paper
• Focal brain malformations: Seizures, signaling, sequencing

  2009cited by this paper
• Ketogenic diet treatment in adults with refractory epilepsy: a prospective pilot study.

  2009cited by this paper
• Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis

  2008cited by this paper
• Response of a Neuronal Model of Tuberous Sclerosis to Mammalian Target of Rapamycin (mTOR) Inhibitors: Effects on mTORC1 and Akt Signaling Lead to Improved Survival and Function

  2008cited by this paper
• Genetics and Molecular Biology of Tuberous Sclerosis Complex

  2008cited by this paper
• Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex

  2008cited by this paper
• Tuberous sclerosis

  2008cited by this paper
• Cell‐specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers

  2008cited by this paper
• A Mouse Model of Tuberous Sclerosis: Neuronal Loss of Tsc1 Causes Dysplastic and Ectopic Neurons, Reduced Myelination, Seizure Activity, and Limited Survival

  2007cited by this paper
• The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC)

  2007cited by this paper
• The tuberous sclerosis complex.

  2006cited by this paper
• Loss of tuberous sclerosis complex 1 (Tsc1) expression results in increased Rheb/S6K pathway signaling important for astrocyte cell size regulation

  2004cited by this paper
• Behavioral and Cognitive Aspects of Tuberous Sclerosis Complex

  2004cited by this paper
• Managing Epilepsy in Tuberous Sclerosis Complex

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• Tuberous sclerosis complex: a review of neurological aspects.

  2002cited by this paper
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  2002cited by this paper
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  2001cited by this paper
• Usefulness of Diagnostic Criteria of Tuberous Sclerosis Complex in Pediatric Patients

  2000cited by this paper
• Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

  1997cited by this paper
• Identification and characterization of the tuberous sclerosis gene on chromosome 16

  1993cited by this paper
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• Tuberous sclerosis with kidneys angiomyolipomas: a family case

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• Tuberous Sclerosis Complex.

  2023cites this paper
• Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy.

  2023cites this paper
• Rapamycin and rapalogs for tuberous sclerosis complex.

  2023cites this paper
• Mild TSC Phenotype and Non-Penetrance Associated with a Frameshift Variant in TSC2 Prompts Caution in Evaluating Pathogenicity of Frameshift Variants.

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• Assessment of disrupted brain functional connectome in tuberous sclerosis complex using resting-state fMRI

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