(Q48359069)

11 February 2018

title

Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations (English)

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Mihaela Vlaicu

object named as

Mihaela Vlaicu

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Patrick Cossette

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object named as

Patrick Cossette

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author name string

Saeko Ishida

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Elise Marsan

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Catherine Miquel

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Arnaud Biraben

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Dang Khoa Nguyen

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Doug Nordli

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Sylvie Nguyen

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Virginie Lambrecq

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Maïlys Daniau

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Franck Bielle

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Eva Andermann

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Frederick Andermann

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Eric Leguern

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Francine Chassoux

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Fabienne Picard

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publication date

13 March 2015

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published in

Annals of Neurology

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volume

77

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issue

4

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page(s)

675-683

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Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.

cites work

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Genetic heterogeneity in familial nocturnal frontal lobe epilepsy

21 January 2018

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Neuropathologic measurements in focal cortical dysplasias: validation of the ILAE 2011 classification system and diagnostic implications for MRI.

21 January 2018

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Malformations of cortical development: burdens and insights from important causes of human epilepsy

21 January 2018

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Type II focal cortical dysplasia: electroclinical phenotype and surgical outcome related to imaging

21 January 2018

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Focal Cortical Dysplasias: clinical implication of neuropathological classification systems.

21 January 2018

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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

21 January 2018

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Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.

21 January 2018

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Focal cortical dysplasia type II: biological features and clinical perspectives

21 January 2018

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Mutations in DEPDC5 cause familial focal epilepsy with variable foci

21 January 2018

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Mutations of DEPDC5 cause autosomal dominant focal epilepsies

21 January 2018

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DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

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DEPDC5 mutations in genetic focal epilepsies of childhood.

21 January 2018

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

21 January 2018

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A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1

21 January 2018

1 reference

Amino acid deprivation inhibits TORC1 through a GTPase-activating protein complex for the Rag family GTPase Gtr1.

21 January 2018

1 reference

mTOR signaling in growth control and disease

21 January 2018

1 reference

Focal malformations of cortical development: new vistas for molecular pathogenesis

21 January 2018

1 reference

Evolving neurobiology of tuberous sclerosis complex

21 January 2018

1 reference

Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder

21 January 2018

1 reference

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

21 January 2018

1 reference

Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation.

21 January 2018

1 reference

Optimizing MR imaging detection of type 2 focal cortical dysplasia: best criteria for clinical practice.

21 January 2018

1 reference

Taylor's focal cortical dysplasia increases the risk of sleep-related epilepsy

21 January 2018

1 reference

Automated detection of cortical dysplasia type II in MRI-negative epilepsy

21 January 2018

1 reference

Epilepsy surgery in children and adults.

21 January 2018

1 reference

FDG-PET improves surgical outcome in negative MRI Taylor-type focal cortical dysplasias

21 January 2018

1 reference

The role of the nicotinic acetylcholine receptors in sleep-related epilepsy

21 January 2018

1 reference

mTOR complexes in neurodevelopmental and neuropsychiatric disorders

21 January 2018

1 reference

mTOR: A pathogenic signaling pathway in developmental brain malformations

21 January 2018

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Pathogenetic mechanisms of focal cortical dysplasia

21 January 2018

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Somatic mutation, genomic variation, and neurological disease

21 January 2018

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Biallelic TSC gene inactivation in tuberous sclerosis complex

21 January 2018

1 reference

Somatic mutations in cerebral cortical malformations

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.24368

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11 February 2018

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11 February 2018