(Q41178385)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25799227%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy (English)

1 reference

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3 March 2020

4

1 reference

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3 March 2020

14

Heung Dong Kim

1 reference

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3 March 2020

3

Hoon-Chul Kang

1 reference

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3 March 2020

author name string

Jae Seok Lim

1

1 reference

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3 March 2020

Woo-il Kim

2

1 reference

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3 March 2020

Ah Hyung Park

5

1 reference

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3 March 2020

Eun Kyung Park

6

1 reference

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3 March 2020

Young-Wook Cho

7

1 reference

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3 March 2020

Sangwoo Kim

8

1 reference

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3 March 2020

Ho Min Kim

9

1 reference

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3 March 2020

Jeong A Kim

10

1 reference

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3 March 2020

Junho Kim

11

1 reference

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3 March 2020

Hwanseok Rhee

12

1 reference

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3 March 2020

Seok-Gu Kang

13

1 reference

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3 March 2020

Daesoo Kim

15

1 reference

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3 March 2020

Dong-Seok Kim

16

1 reference

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3 March 2020

Jeong Ho Lee

17

1 reference

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3 March 2020

language of work or name

English

0 references

publication date

23 March 2015

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25799227%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

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3 March 2020

volume

21

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3 March 2020

issue

4

1 reference

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3 March 2020

page(s)

395-400

1 reference

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https://scigraph.springernature.com/pub.10.1038/nm.3824

3 March 2020

exact match

0 references

cites work

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ

1 reference

12 December 2020

Point mutations in TOR confer Rheb-independent growth in fission yeast and nutrient-independent mammalian TOR signaling in mammalian cells

1 reference

12 December 2020

mTOR cascade activation distinguishes tubers from focal cortical dysplasia

1 reference

12 December 2020

Somatic activation of AKT3 causes hemispheric developmental brain malformations

1 reference

12 December 2020

Somatic mutation, genomic variation, and neurological disease

1 reference

12 December 2020

Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice

1 reference

12 December 2020

The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission

1 reference

12 December 2020

mTOR: A pathogenic signaling pathway in developmental brain malformations

1 reference

12 December 2020

The role of replicates for error mitigation in next-generation sequencing

1 reference

12 December 2020

Long-term, selective gene expression in developing and adult hippocampal pyramidal neurons using focal in utero electroporation

1 reference

12 December 2020

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.

1 reference

12 December 2020

The tuberous sclerosis complex

1 reference

12 December 2020

mTOR-dependent abnormalities in autophagy characterize human malformations of cortical development: evidence from focal cortical dysplasia and tuberous sclerosis

1 reference

12 December 2020

Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.

1 reference

12 December 2020

Detection of human papillomavirus in human focal cortical dysplasia type IIB.

1 reference

12 December 2020

Evidence for mTOR pathway activation in a spectrum of epilepsy-associated pathologies.

1 reference

12 December 2020

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

1 reference

12 December 2020

Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex.

1 reference

12 December 2020

Malformations of cortical development

1 reference

12 December 2020

Virmid: accurate detection of somatic mutations with sample impurity inference

1 reference

12 December 2020

Focal cortical dysplasias: surgical outcome in 67 patients in relation to histological subtypes and dual pathology

1 reference

12 December 2020

Insulin signaling pathways in cortical dysplasia and TSC-tubers: tissue microarray analysis.

1 reference

12 December 2020

Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis

1 reference

12 December 2020

Focal cortical dysplasia: prevalence, clinical presentation and epilepsy in children and adults.

1 reference

12 December 2020

Clinical characteristics in focal cortical dysplasia: a retrospective evaluation in a series of 120 patients.

1 reference

12 December 2020

Focal dysplasia of the cerebral cortex in epilepsy

1 reference

12 December 2020

Focal cortical dysplasia type II: biological features and clinical perspectives

1 reference

12 December 2020

A high frequency of sequence alterations is due to formalin fixation of archival specimens

1 reference

12 December 2020

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

1 reference

12 December 2020

A diverse array of cancer-associated MTOR mutations are hyperactivating and can predict rapamycin sensitivity.

1 reference

12 December 2020

mTOR kinase structure, mechanism and regulation

1 reference

12 December 2020

Everolimus treatment of refractory epilepsy in tuberous sclerosis complex

1 reference

12 December 2020

Focal brain malformations: seizures, signaling, sequencing

1 reference

12 December 2020

Different features of histopathological subtypes of pediatric focal cortical dysplasia

1 reference

12 December 2020

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

1 reference

12 December 2020

Focal cortical dysplasia type IIa and IIb: MRI aspects in 118 cases proven by histopathology

1 reference

12 December 2020

Neuroimaging in identifying focal cortical dysplasia and prognostic factors in pediatric and adolescent epilepsy surgery.

1 reference

12 December 2020

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

1 reference

12 December 2020