Cargando…

CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications

PURPOSE: Previously, mutations in the voltage-gated calcium channel subunit alpha1 A (CACNA1A) gene have been reported to be associated with paroxysmal disorders, typically as episodic ataxia type 2. To determine the relationship between CACNA1A and epilepsies and the role of molecular sub-regional...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Xue-Lian, Li, Zong-Jun, Liang, Xiao-Yu, Liu, De-Tian, Jiang, Mi, Gao, Liang-Di, Li, Huan, Tang, Xue-Qing, Shi, Yi-Wu, Li, Bing-Mei, He, Na, Li, Bin, Bian, Wen-Jun, Yi, Yong-Hong, Cheng, Chuan-Fang, Wang, Jie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Molecular Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9116572/ https://www.ncbi.nlm.nih.gov/pubmed/35600082 http://dx.doi.org/10.3389/fnmol.2022.860662

Ejemplares similares

LncRNA ENSMUST00000155383 is Involved in the Improvement of DPP-4 Inhibitor MK-626 on Vascular Endothelial Function by Modulating Cacna1c-Mediated Ca(2+) Influx in Hypertensive Mice
por: Zhang, Yi, et al.
Publicado: (2021)

SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation
por: Luo, Sheng, et al.
Publicado: (2023)

SHROOM4 Variants Are Associated With X-Linked Epilepsy With Features of Generalized Seizures or Generalized Discharges
por: Bian, Wen-Jun, et al.
Publicado: (2022)

Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family
por: Jin, Jie-Yuan, et al.
Publicado: (2021)

Identification of a novel CACNA1F mutation in a Chinese family with CORDX3
por: Du, Meng, et al.
Publicado: (2022)

Disruption of mitochondrial and lysosomal functions by human CACNA1C variants expressed in HEK 293 and CHO cells
por: Kessi, Miriam, et al.
Publicado: (2023)

Editorial: Sub-molecular mechanism of genetic epilepsy
por: Liao, Wei-Ping, et al.
Publicado: (2022)

GRIN2A Variants Associated With Idiopathic Generalized Epilepsies
por: Liu, Xiao-Rong, et al.
Publicado: (2021)

Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine
por: Maksemous, Neven, et al.
Publicado: (2022)

Association of single nucleotide polymorphisms in CACNA 1A/CACNA 1C/CACNA 1H calcium channel genes with diabetic peripheral neuropathy in Chinese population
por: Sun, Lin, et al.
Publicado: (2018)

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

The clinicopathological features of ganglioglioma with CD34 expression and BRAF mutation in patients with epilepsy
por: Xie, Ming-Guo, et al.
Publicado: (2023)

Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E
por: Carvill, Gemma L.
Publicado: (2019)

Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy
por: Lv, Yudan, et al.
Publicado: (2017)

Two Children with Early-Onset Strokes and Intractable Epilepsy, Both with CACNA1A Mutations
por: Bolte, Kristen N., et al.
Publicado: (2022)

The genotype–phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews
por: Kessi, Miriam, et al.
Publicado: (2023)

Analysis and Construction of a Molecular Diagnosis Model of Drug-Resistant Epilepsy Based on Bioinformatics
por: Han, Tenghui, et al.
Publicado: (2021)

MicroRNA-211-5p suppresses tumour cell proliferation, invasion, migration and metastasis in triple-negative breast cancer by directly targeting SETBP1
por: Chen, Liang-liang, et al.
Publicado: (2017)

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy
por: Pinggera, Alexandra, et al.
Publicado: (2017)

Expanding the phenotypic spectrum of KCNK4: From syndromic neurodevelopmental disorder to rolandic epilepsy
por: Yan, Hong-Jun, et al.
Publicado: (2023)

Genome-Wide Enhancer Analysis Reveals the Role of AP-1 Transcription Factor in Head and Neck Squamous Cell Carcinoma
por: Wang, Chen-Yu, et al.
Publicado: (2021)

SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis
por: Zeng, Qi, et al.
Publicado: (2022)

Prevention and Control of Pathogens Based on Big-Data Mining and Visualization Analysis
por: Chen, Cui‐Xia, et al.
Publicado: (2021)

Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy
por: Becker, Felicitas, et al.
Publicado: (2017)

A novel CACNA1A variant in a child with early stroke and intractable epilepsy
por: Gudenkauf, Franciska J., et al.
Publicado: (2020)

Identification of an IRGP Signature to Predict Prognosis and Immunotherapeutic Efficiency in Bladder Cancer
por: Zhang, Liang-Hao, et al.
Publicado: (2021)

Circulating MicroRNAs From Plasma Small Extracellular Vesicles as Potential Diagnostic Biomarkers in Pediatric Epilepsy and Drug-Resistant Epilepsy
por: Wang, Yilong, et al.
Publicado: (2022)

A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness
por: Gu, Yonghao, et al.
Publicado: (2008)

Laminarin protects against hydrogen peroxide-induced oxidative damage in MRC-5 cells possibly via regulating NRF2
por: Liu, Xue, et al.
Publicado: (2017)

Transcriptional regulator-mediated activation of adaptation genes triggers CRISPR de novo spacer acquisition
por: Liu, Tao, et al.
Publicado: (2015)

The emerging roles of N(6)-methyladenosine in osteoarthritis
por: Liu, Hui, et al.
Publicado: (2022)

The genome-wide supported CACNA1C gene polymorphisms and the risk of schizophrenia: an updated meta-analysis
por: Liu, Yong-ping, et al.
Publicado: (2020)

Roles of N-Methyl-D-Aspartate Receptors (NMDARs) in Epilepsy
por: Chen, Shuang, et al.
Publicado: (2022)

Epilepsy and Hearing Loss in a Patient with a Rare Heterozygous Variant in the CACNA1H Gene
por: Algahtani, Hussein A., et al.
Publicado: (2022)

UNC13B variants associated with partial epilepsy with favourable outcome
por: Wang, Jie, et al.
Publicado: (2021)

Expanding the phenotype of CACNA1C mutation disorders
por: Gakenheimer‐Smith, Lindsey, et al.
Publicado: (2021)

Paraoxonase-1 (PON1) rs662 Polymorphism and Its Association with Serum Lipid Levels and Longevity in the Bama Zhuang Population
por: Li, You, et al.
Publicado: (2016)

Methylation of the calcium channel regulatory subunit α2δ-3 (CACNA2D3) predicts site-specific relapse in oestrogen receptor-positive primary breast carcinomas
por: Palmieri, C, et al.
Publicado: (2012)

Signaling and functions of interleukin-33 in immune regulation and diseases
por: Yi, Xue-Mei, et al.
Publicado: (2022)

Functional implications of a psychiatric risk variant within CACNA1C in induced human neurons
por: Yoshimizu, Takao, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_sh6n0hskuksre8eaj324f7j4ja