(Q36770459)

16 August 2017

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title

Tuberous sclerosis complex and epilepsy: recent developments and future challenges (English)

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16 August 2017

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2

Carl E Stafstrom

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16 August 2017

Gregory L Holmes

1

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16 August 2017

Tuberous Sclerosis Study Group

series ordinal

3

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16 August 2017

publication date

26 March 2007

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16 August 2017

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16 August 2017

volume

48

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16 August 2017

issue

4

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16 August 2017

page(s)

617-630

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Loss of the TSC2 product tuberin in subependymal giant-cell tumors

16 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

A developmental and genetic classification for malformations of cortical development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Surgical treatment for epilepsy in cerebral tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Neuroepileptic correlates of autistic symptomatology in tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Association of tuberous sclerosis of temporal lobes with autism and atypical autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Molecular genetic advances in tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Imaging epileptogenic tubers in children with tuberous sclerosis complex using alpha-[11C]methyl-L-tryptophan positron emission tomography

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Expression profiling in tuberous sclerosis complex (TSC) knockout mouse astrocytes to characterize human TSC brain pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Autism and associated medical disorders in a French epidemiological survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Rapamycin causes regression of astrocytomas in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Tuberin negatively affects BCL-2's cell survival function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Tuberin activates the proapoptotic molecule BAD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Tsc tumour suppressor proteins antagonize amino-acid-TOR signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Dysregulation of the TSC-mTOR pathway in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Signaling by target of rapamycin proteins in cell growth control

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Epileptogenesis and reduced inward rectifier potassium current in tuberous sclerosis complex-1-deficient astrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Identification of the epileptogenic tuber in patients with tuberous sclerosis: a comparison of high-resolution EEG and MEG

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Hamartin and tuberin: working together for tumour suppression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Tuberous sclerosis complex and the ketogenic diet

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Tuberous sclerosis: from tubers to mTOR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Identification of candidates for epilepsy surgery in patients with tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Rheb binding to mammalian target of rapamycin (mTOR) is regulated by amino acid sufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

The United Kingdom Infantile Spasms Study (UKISS) comparing hormone treatment with vigabatrin on developmental and epilepsy outcomes to age 14 months: a multicentre randomised trial.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Molecular genetic aspects of the phakomatoses: tuberous sclerosis complex and neurofibromatosis 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Neuropathology of tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Absence of allelic loss in cytomegalic neurons of cortical tuber in the Eker rat model of tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Renal angiomyolipomas, cysts, and cancer in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Tuberous sclerosis complex: from Drosophila to human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Subependymal giant cell astrocytoma: a clinical, pathological, and flow cytometric study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Progress toward understanding epileptogenesis in tuberous sclerosis complex: two hits, no outs, and the Eker rat is up to bat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Mitogen-activated protein kinases in synaptic plasticity and memory.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Abnormal cortical cells and astrocytomas in the Eker rat model of tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Impaired synaptic plasticity in a rat model of tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Enhanced episodic-like memory and kindling epilepsy in a rat model of tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Morphology of cerebral lesions in the Eker rat model of tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Selective alterations in glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Impaired glial glutamate transport in a mouse tuberous sclerosis epilepsy model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

Lessons from the Eker rat model: from cage to bedside

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

The genetic basis of tuberous sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

TSC1–TSC2: a complex tale of PKB-mediated S6K regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01035.X

10.1111/J.1528-1167.2007.01035.X

21 January 2018

Identifiers

DOI

1 reference

16 August 2017

1 reference