Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA-Reference-Cited by-同舟云学术

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

Published:2019-06-17 Issue:7 Volume:6 Page:1338-1344
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Lee Wei Shern¹²,Stephenson Sarah E. M.¹²,Howell Katherine B.¹²³⁴,Pope Kate¹,Gillies Greta¹,Wray Alison¹⁵,Maixner Wirginia¹⁵,Mandelstam Simone A.¹²⁴⁶,Berkovic Samuel F.²⁴^ORCID,Scheffer Ingrid E.¹²³⁴,MacGregor Duncan¹⁷,Harvey Anthony Simon¹²³,Lockhart Paul J.¹²^ORCID,Leventer Richard J.¹²³^ORCID

Affiliation:

1. Murdoch Children’s Research Institute Melbourne Victoria Australia

2. University of Melbourne Melbourne Victoria Australia

3. Royal Children’s Hospital Department of Neurology Melbourne Victoria Australia

4. The Florey Institute of Neuroscience and Mental Health Melbourne Victoria Australia

5. Royal Children’s Hospital Department of Neurosurgery Melbourne Victoria Australia

6. Royal Children’s Hospital Department of Medical Imaging Melbourne Victoria Australia

7. Royal Children’s Hospital Department of Anatomical Pathology Melbourne Victoria Australia

Funder

Department of Health, State Government of Victoria

Brain Foundation

National Health and Medical Research Council

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.50815

Reference24 articles.

1. Are Cytomegalic Neurons and Balloon Cells Generators of Epileptic Activity in Pediatric Cortical Dysplasia?

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

3. Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

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

5. Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia

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