Asset Details

MbrlCatalogueTitleDetail

Do you wish to reserve the book?

Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

by Scheffer, Ingrid E. , Gillies, Greta , MacGregor, Duncan , Maixner, Wirginia , Harvey, Anthony Simon , Lockhart, Paul J. , Lee, Wei Shern , Howell, Katherine B. , Berkovic, Samuel F. , Mandelstam, Simone A. , Stephenson, Sarah E. M. , Wray, Alison , Pope, Kate , Leventer, Richard J.

in Brain - diagnostic imaging / Brain research / Brief Communication / Brief Communications / Cerebral Cortex - diagnostic imaging / Cerebral Cortex - pathology / Child / Convulsions & seizures / Drug Resistant Epilepsy - genetics / Families & family life / GTPase-Activating Proteins - genetics / Histopathology / Humans / Lasers / Male / Malformations of Cortical Development - diagnostic imaging / Malformations of Cortical Development - genetics / Malformations of Cortical Development - pathology / Malformations of Cortical Development - physiopathology / Motor ability / Mutation / Neurons / Neurons - pathology / Social interaction / TOR Serine-Threonine Kinases - genetics

2019

Yes Please

Hey, we have placed the reservation for you!

By the way, why not check out events that you can attend while you pick your title.

Oops! Something went wrong.

Looks like we were not able to place the reservation. Kindly try again later.

Are you sure you want to remove the book from the shelf?

Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

2019

Confirm

Do you wish to request the book?

Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

2019

Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy

How would you like to get it?

Submit

We have requested the book for you!

Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.

Oops! Something went wrong.

Looks like we were not able to place your request. Kindly try again later.

Journal Article

Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

Scheffer, Ingrid E.,

Gillies, Greta,

MacGregor, Duncan,

Maixner, Wirginia,

Harvey, Anthony Simon,

Lockhart, Paul J.,

Lee, Wei Shern,

Howell, Katherine B.,

Berkovic, Samuel F.,

Mandelstam, Simone A.,

Stephenson, Sarah E. M.,

Wray, Alison,

Pope, Kate,

Leventer, Richard J.

2019

Overview

Focal cortical dysplasia (FCD) causes drug‐resistant epilepsy and is associated with pathogenic variants in mTOR pathway genes. How germline variants cause these focal lesions is unclear, however a germline + somatic “2‐hit” model is hypothesized. In a boy with drug‐resistant epilepsy, FCD, and a germline DEPDC5 pathogenic variant, we show that a second‐hit DEPDC5 variant is limited to dysmorphic neurons, and the somatic mutation load correlates with both dysmorphic neuron density and the epileptogenic zone. These findings provide new insights into the molecular and cellular correlates of FCD determining drug‐resistant epilepsy and refine conceptualization of the epileptogenic zone.

Share this book

Add to My Shelf

Publisher

John Wiley & Sons, Inc,John Wiley and Sons Inc,Wiley

Subject

Brain - diagnostic imaging

/ Brain research

/ Brief Communication

/ Brief Communications

/ Cerebral Cortex - diagnostic imaging

/ Cerebral Cortex - pathology

/ Child