Cargando…

Functional characterization of a KCNAB3 genetic epilepsy with febrile seizures plus adult mouse model

BACKGROUND: Genetic epilepsy with febrile seizures plus (GEFS+) is a type of epileptic syndrome closely related to heredity factors, which can be caused by gene mutations. However, it still remains unclear how these mutations result in seizures. Previously, we identified a new heterozygous missense...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ding, Jian, Wang, Chun, Huang, Guo-Qiang, Zhang, Jing-Wen, Zhai, Qiong-Xiang, Chen, Zhi-Hong, Zhang, Yu-Xin, Guo, Yu-Xiong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	AME Publishing Company 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9636457/ https://www.ncbi.nlm.nih.gov/pubmed/36345448 http://dx.doi.org/10.21037/tp-22-436

Ejemplares similares

H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus
por: Ding, Jian, et al.
Publicado: (2020)

ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus
por: Tian, Yang, et al.
Publicado: (2022)

DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect
por: Liu, Liu, et al.
Publicado: (2020)

An SCN1A gene missense variant in a Chinese Tujia ethnic family with genetic epilepsy with febrile seizures plus
por: Li, Ling, et al.
Publicado: (2023)

CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures
por: Li, Jia, et al.
Publicado: (2021)

ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities
por: Zhou, Peng, et al.
Publicado: (2022)

Vagus nerve stimulation for generalized epilepsy with febrile seizures plus (GEFS(+)) accompanying seizures with impaired consciousness
por: Hanaya, Ryosuke, et al.
Publicado: (2016)

Melatonin’s Effect in Febrile Seizures and Epilepsy
por: MAHYAR, Abolfazl, et al.
Publicado: (2014)

Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation
por: Wang, Jing-Yang, et al.
Publicado: (2022)

Epilepsy in children with a history of febrile seizures
por: Lee, Sang Hyun, et al.
Publicado: (2016)

The Genetics of Febrile Seizures
por: Ram, Dipak, et al.
Publicado: (2015)

SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families
por: Cornejo-Sanchez, Diana M., et al.
Publicado: (2022)

Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family
por: Zhang, Tian, et al.
Publicado: (2020)

Association Analysis of Interleukin-1β, Interleukin-6, and HMGB1 Variants with Postictal Serum Cytokine Levels in Children with Febrile Seizure and Generalized Epilepsy with Febrile Seizure Plus
por: Choi, Jieun, et al.
Publicado: (2019)

Kcnab1 Is Expressed in Subplate Neurons With Unilateral Long-Range Inter-Areal Projections
por: Tiong, Sheena Yin Xin, et al.
Publicado: (2019)

The Ion Channel Gene KCNAB2 Is Associated with Poor Prognosis and Loss of Immune Infiltration in Lung Adenocarcinoma
por: Lyu, Yin, et al.
Publicado: (2022)

KCNAB2 overexpression inhibits human non-small-cell lung cancer cell growth in vitro and in vivo
por: Cheng, Feng, et al.
Publicado: (2023)

Atypical Febrile Seizures, Mesial Temporal Lobe Epilepsy, and Dual Pathology
por: Sanon, Nathalie T., et al.
Publicado: (2012)

Prognostic factors for epilepsy following first febrile seizure in Saudi children
por: Almojali, Abdullah I., et al.
Publicado: (2017)

Evaluation of the risk factors for recurrence and the development of epilepsy in patients with febrile seizure
por: Civan, Ahmet Burak, et al.
Publicado: (2022)

Xenon inhalation attenuates neuronal injury and prevents epilepsy in febrile seizure Sprague-Dawley pups
por: Cheng, Yao, et al.
Publicado: (2023)

Febrile seizures
por: Chung, Sajun
Publicado: (2014)

A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family
por: Belhedi, Nejla, et al.
Publicado: (2013)

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
por: Kasperavičiūtė, Dalia, et al.
Publicado: (2013)

Exploring Variances of White Matter Integrity and the Glymphatic System in Simple Febrile Seizures and Epilepsy
por: Salimeen, Mustafa Salimeen Abdelkareem, et al.
Publicado: (2021)

Functional Variant in Complement C3 Gene Promoter and Genetic Susceptibility to Temporal Lobe Epilepsy and Febrile Seizures
por: Jamali, Sarah, et al.
Publicado: (2010)

Febrile seizures: an overview
por: Leung, Alexander KC, et al.
Publicado: (2018)

Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient
por: Tan, Emmilia H., et al.
Publicado: (2012)

Febrile Seizures and Febrile Seizure Syndromes: An Updated Overview of Old and Current Knowledge
por: Khair, Abdulhafeez M., et al.
Publicado: (2015)

PRRT2 Mutations Are Related to Febrile Seizures in Epileptic Patients
por: He, Zheng-Wen, et al.
Publicado: (2014)

YWHAG Mutations Cause Childhood Myoclonic Epilepsy and Febrile Seizures: Molecular Sub-regional Effect and Mechanism
por: Ye, Xing-Guang, et al.
Publicado: (2021)

AFF2 Is Associated With X-Linked Partial (Focal) Epilepsy With Antecedent Febrile Seizures
por: Zou, Dongfang, et al.
Publicado: (2022)

Development and validation of a predictive model for febrile seizures
por: Cheng, Anna, et al.
Publicado: (2023)

Risk factors for secondary epilepsy in children with complex febrile seizures and their effect on growth and development—a retrospective cohort study
por: Duan, Meihua, et al.
Publicado: (2023)

Haploinsufficiency of KCNAB3 causes sudden cardiac death through delayed inactivation of Kv1.5 channel upon depolarization and induced myocardial apoptosis
por: Ji, He-Yu, et al.
Publicado: (2022)

The Influence of Vaccine on Febrile Seizure
por: Li, Xin, et al.
Publicado: (2018)

Management of Pediatric Febrile Seizures
por: Laino, Daniela, et al.
Publicado: (2018)

Febrile seizures: A review
por: Eilbert, Wesley, et al.
Publicado: (2022)

Intergenerational Transmission of Enhanced Seizure Susceptibility after Febrile Seizures
por: Wu, Dengchang, et al.
Publicado: (2017)

DNA methyltransferase isoforms expression in the temporal lobe of epilepsy patients with a history of febrile seizures
por: de Nijs, Laurence, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_puc6rh5trag99a1r341ku3htga