Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. (Q50657268)

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9 March 2020

title

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations (English)

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Sarah E Heron

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Douglas E Crompton

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Francesca Bisulli

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Jozef Gécz

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Samuel Berkovic

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Brigid M Regan

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Simone Mandelstam

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Lata Vadlamudi

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Paolo Tinuper

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Leanne Dibbens

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Laura Licchetta

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Bree L Hodgson

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author name string

Alan Connelly

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Michael G Ricos

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Federica Provini

8

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publication date

14 April 2014

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volume

75

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page(s)

782-787

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issue

5

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Mutations in DEPDC5 cause familial focal epilepsy with variable foci

9 March 2020

cites work

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Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.

21 January 2018

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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

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21 January 2018

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Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

21 January 2018

1 reference

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions

21 January 2018

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Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

21 January 2018

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