Cargando…

Brain Somatic Variant in Ras-Like Small GTPase RALA Causes Focal Cortical Dysplasia Type II

PURPOSE: In our group’s previous study, we performed deep whole-exome sequencing and targeted amplicon sequencing in the postoperative brain tissue of epilepsy patients with focal cortical dysplasia type II (FCD II). We identified the first somatic variant of RALA in the brain tissue of a child with...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xu, Han, Gao, Kai, Liu, Qingzhu, Wang, Tianshuang, Zhang, Zhongbin, Cai, Lixin, Wu, Ye, Jiang, Yuwu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Behavioral Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9280360/ https://www.ncbi.nlm.nih.gov/pubmed/35846790 http://dx.doi.org/10.3389/fnbeh.2022.919485

Ejemplares similares

Upregulation of HMGB1-TLR4 inflammatory pathway in focal cortical dysplasia type II
por: Zhang, Zhongbin, et al.
Publicado: (2018)

Brain somatic mutations in MTOR leading to focal cortical dysplasia
por: Lim, Jae Seok, et al.
Publicado: (2016)

A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II
por: Zhao, Shanshan, et al.
Publicado: (2019)

TD-60 links RalA GTPase function to the CPC in mitosis
por: Papini, Diana, et al.
Publicado: (2015)

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy
por: Møller, Rikke S., et al.
Publicado: (2016)

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
por: Hiatt, Susan M., et al.
Publicado: (2018)

The GTPase RalA Regulates Different Steps of the Secretory Process in Pancreatic β-Cells
por: Ljubicic, Sanda, et al.
Publicado: (2009)

Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup
por: Checri, Rayann, et al.
Publicado: (2023)

Focal cortical dysplasia – review
por: Kabat, Joanna, et al.
Publicado: (2012)

MRI of focal cortical dysplasia
por: Urbach, Horst, et al.
Publicado: (2021)

RalA, a GTPase targeted by miR-181a, promotes transformation and progression by activating the Ras-related signaling pathway in chronic myelogenous leukemia
por: Gu, Chunming, et al.
Publicado: (2016)

RalA Suppresses Early Stages of Ras-Induced Squamous Cell Carcinoma Progression
por: Sowalsky, Adam G., et al.
Publicado: (2009)

Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
por: Guerrini, Renzo, et al.
Publicado: (2020)

Focal Cortical Dysplasia and Epilepsy Surgery
por: Lee, Sang Kun, et al.
Publicado: (2013)

Focal cortical dysplasia type 1
por: Coras, Roland, et al.
Publicado: (2021)

Focal Cortical Dysplasia with hippocampal sclerosis
por: Jadav, Devendra, et al.
Publicado: (2023)

Sirolimus for epileptic seizures associated with focal cortical dysplasia type II
por: Kato, Mitsuhiro, et al.
Publicado: (2022)

RCC2 Interacts with Small GTPase RalA and Regulates Cell Proliferation and Motility in Gastric Cancer
por: Wang, Pengpeng, et al.
Publicado: (2020)

Clinical and immunohistochemical characteristics of type II and type I focal cortical dysplasia
por: Yao, Kun, et al.
Publicado: (2016)

Focal cortical dysplasias in autism spectrum disorders
por: Casanova, Manuel F, et al.
Publicado: (2013)

Rasmussen's encephalitis presenting as focal cortical dysplasia
por: O'Rourke, D.J., et al.
Publicado: (2014)

Calcium‐binding proteins in focal cortical dysplasia
por: Kuchukhidze, Giorgi, et al.
Publicado: (2015)

The Surgical and Cognitive Outcomes of Focal Cortical Dysplasia
por: Choi, Sun Ah, et al.
Publicado: (2019)

Not So Innocent Bystanders in Focal Cortical Dysplasia
por: Wang, Yu
Publicado: (2021)

Small Lesion Size Is Associated with Sleep-Related Epilepsy in Focal Cortical Dysplasia Type II
por: Jin, Bo, et al.
Publicado: (2018)

DEPDC5 variant in focal cortical dysplasia: a case report and review of the literature
por: Jesus-Ribeiro, Joana, et al.
Publicado: (2021)

Diffusion tensor imaging discriminates focal cortical dysplasia from normal brain parenchyma and differentiates between focal cortical dysplasia types
por: Gennari, Antonio Giulio, et al.
Publicado: (2023)

Clinical features and surgical outcomes in young children with focal cortical dysplasia type II
por: Wang, Tian‐Shuang, et al.
Publicado: (2019)

An open presurgery MRI dataset of people with epilepsy and focal cortical dysplasia type II
por: Schuch, Fabiane, et al.
Publicado: (2023)

Superior Frontal Sulcus Focal Cortical Dysplasia Type II: An MRI, PET, and Quantified SEEG Study
por: Zhang, Chao, et al.
Publicado: (2019)

Non-invasive treatment options for focal cortical dysplasia
por: WANG, TING-TING, et al.
Publicado: (2016)

“Within a minute” detection of focal cortical dysplasia
por: Urbach, Horst, et al.
Publicado: (2021)

RAS GTPases are modified by SUMOylation
por: Choi, Byeong Hyeok, et al.
Publicado: (2017)

Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping Review
por: Jesus-Ribeiro, Joana, et al.
Publicado: (2021)

New Classification of Focal Cortical Dysplasia: Application to Practical Diagnosis
por: Bae, Yoon-Sung, et al.
Publicado: (2012)

Sleep influences the intracerebral EEG pattern of focal cortical dysplasia
por: Menezes Cordeiro, Inês, et al.
Publicado: (2015)

Cutting-Edge Classification of Focal Cortical Dysplasia for Epilepsy Surgery
por: Vossler, David G.
Publicado: (2021)

Specific Features of Focal Cortical Dysplasia in Tuberous Sclerosis Complex
por: Bychkova, Ekaterina, et al.
Publicado: (2023)

Expression of TRPC6 and BDNF in Cortical Lesions From Patients With Focal Cortical Dysplasia
por: Zheng, Da-Hai, et al.
Publicado: (2016)

A quantitative study of white matter hypomyelination and oligodendroglial maturation in focal cortical dysplasia type II
por: Shepherd, Caterina, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_teokg5n3nkfgv69b18oucaaca6