Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. (Q41178385)

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scientific article published on 23 March 2015

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English	Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.	scientific article published on 23 March 2015

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title

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

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Se Hoon Kim

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4

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Heung Dong Kim

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14

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Heung Dong Kim

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3 March 2020

Hoon-Chul Kang

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Hoon-Chul Kang

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3 March 2020

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Jae Seok Lim

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3 March 2020

Woo-il Kim

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2

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3 March 2020

Ah Hyung Park

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5

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Eun Kyung Park

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Young-Wook Cho

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Sangwoo Kim

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8

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3 March 2020

Ho Min Kim

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9

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3 March 2020

Jeong A Kim

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3 March 2020

Junho Kim

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11

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25799227

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3 March 2020

Hwanseok Rhee

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12

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3 March 2020

Seok-Gu Kang

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13

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3 March 2020

Daesoo Kim

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25799227

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3 March 2020

Dong-Seok Kim

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16

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3 March 2020

Jeong Ho Lee

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17

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25799227

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3 March 2020

language of work or name

English

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publication date

23 March 2015

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3 March 2020

published in

Nature Medicine

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25799227

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3 March 2020

volume

21

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issue

4

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25799227

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3 March 2020

page(s)

395-400

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25799227

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3 March 2020

cites work

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/25799227

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12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/25799227

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12 December 2020

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mTOR cascade activation distinguishes tubers from focal cortical dysplasia

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12 December 2020

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Somatic activation of AKT3 causes hemispheric developmental brain malformations

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12 December 2020

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Somatic mutation, genomic variation, and neurological disease

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12 December 2020

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

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12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/25799227

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12 December 2020

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mTOR: A pathogenic signaling pathway in developmental brain malformations

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https://pubmed.ncbi.nlm.nih.gov/25799227

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12 December 2020

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

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

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

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

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12 December 2020

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

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12 December 2020

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

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

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

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Virmid: accurate detection of somatic mutations with sample impurity inference

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12 December 2020

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

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12 December 2020

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

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

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12 December 2020

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

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12 December 2020

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Focal dysplasia of the cerebral cortex in epilepsy

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https://pubmed.ncbi.nlm.nih.gov/25799227

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12 December 2020

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Focal cortical dysplasia type II: biological features and clinical perspectives

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12 December 2020

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

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12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/25799227

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12 December 2020

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

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12 December 2020

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mTOR kinase structure, mechanism and regulation

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12 December 2020

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Everolimus treatment of refractory epilepsy in tuberous sclerosis complex

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12 December 2020

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Focal brain malformations: seizures, signaling, sequencing

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12 December 2020

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Different features of histopathological subtypes of pediatric focal cortical dysplasia

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12 December 2020

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

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

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12 December 2020

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

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

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Identifiers

DOI

10.1038/NM.3824

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stated in

Europe PubMed Central

PubMed publication ID

25799227

reference URL

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

retrieved

3 March 2020

PubMed publication ID

25799227

1 reference

stated in

Europe PubMed Central

PubMed publication ID

25799227

reference URL

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

retrieved

3 March 2020

ResearchGate publication ID

274010481

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