Cargando…

Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers’ Syndrome Genotypes

Alpers’ syndrome is an early inceptive neurodegenerative disorder with a poor prognosis, characterized by developmental regression, intractable epilepsy, and hepatic dysfunction. Candidate genes, such as POLG, PARS2, CARS2, FARS2, NARS2, and GABRB2 are distinguished and registered following research...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Hua, Wang, Wei, Han, Xiaodi, Zhang, Yujia, Dai, Lifang, Xu, Manting, Deng, Jie, Ding, Changhong, Wang, Xiaohui, Chen, Chunhong, Yang, Xiaofeng, Fang, Fang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pharmacology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8526534/ https://www.ncbi.nlm.nih.gov/pubmed/34690748 http://dx.doi.org/10.3389/fphar.2021.669516

Ejemplares similares

Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome
por: Wang, Junling, et al.
Publicado: (2021)

Corrigendum: Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome
por: Wang, Junling, et al.
Publicado: (2021)

Astrocytic pathology in Alpers’ syndrome
por: Smith, Laura A, et al.
Publicado: (2023)

Delineating selective vulnerability of inhibitory interneurons in Alpers' syndrome
por: Smith, Laura A., et al.
Publicado: (2022)

Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy
por: Zhang, Hongwei, et al.
Publicado: (2023)

Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation
por: Li, Hua, et al.
Publicado: (2019)

Alpers–Huttenlocher syndrome: the role of a multidisciplinary health care team
por: Saneto, Russell P
Publicado: (2016)

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome
por: Schaller, André, et al.
Publicado: (2011)

Dissecting the neuronal vulnerability underpinning Alpers’ syndrome: a clinical and neuropathological study
por: Hayhurst, Hannah, et al.
Publicado: (2018)

Comparative Assessment of TSPO Modulators on Electroencephalogram Activity and Exploratory Behavior
por: Hines, Rochelle M., et al.
Publicado: (2022)

CYP2D6 Genotype-Based Dose Recommendations for Risperidone in Asian People
por: Cui, Yuanxia, et al.
Publicado: (2020)

Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?
por: Park, Sowon, et al.
Publicado: (2017)

Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency
por: Zhou, Ling, et al.
Publicado: (2020)

Rituximab Concentration Varies in Patients With Different Lymphoma Subtypes and Correlates With Clinical Outcome
por: Liu, Shu, et al.
Publicado: (2022)

Electroencephalogram Mechanism of Dexmedetomidine Deepening Sevoflurane Anesthesia
por: Zhang, Lei, et al.
Publicado: (2022)

Administration of Micronized Caffeine Using a Novel Oral Delivery Film Results in Rapid Absorption and Electroencephalogram Suppression
por: Hines, Rochelle M., et al.
Publicado: (2019)

Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature
por: Han, Xiaodi, et al.
Publicado: (2022)

Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanisms
por: Qian, Yufeng, et al.
Publicado: (2015)

Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea
por: Liu, Zhimei, et al.
Publicado: (2019)

Naringenin Inhibits Platelet Activation and Arterial Thrombosis Through Inhibition of Phosphoinositide 3-Kinase and Cyclic Nucleotide Signaling
por: Huang, Manting, et al.
Publicado: (2021)

Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases
por: Chen, Chunhong, et al.
Publicado: (2022)

Endoplasmic Reticulum Stress Activation in Alport Syndrome Varies Between Genotype and Cell Type
por: Wang, Cong, et al.
Publicado: (2020)

Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients
por: Wang, Xu, et al.
Publicado: (2022)

Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report
por: Wang, Hongmei, et al.
Publicado: (2022)

Children's Neurological Status Epilepticus and Poor Prognostic Factors through Electroencephalogram Image under Composite Domain Analysis Algorithm
por: Zhang, Runhan, et al.
Publicado: (2021)

Berberine Attenuates Cell Motility via Inhibiting Inflammation-Mediated Lysyl Hydroxylase-2 and Glycolysis
por: Du, Yishan, et al.
Publicado: (2022)

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ
por: Euro, Liliya, et al.
Publicado: (2011)

Sleep Quality and Electroencephalogram Delta Power
por: Long, Siyu, et al.
Publicado: (2021)

Heartfulness Meditation Alters Electroencephalogram Oscillations: An Electroencephalogram Study
por: Krishna, Dwivedi, et al.
Publicado: (2022)

Niaoduqing alleviates podocyte injury in high glucose model via regulating multiple targets and AGE/RAGE pathway: Network pharmacology and experimental validation
por: Fang, Yipeng, et al.
Publicado: (2023)

The electroencephalogram in syncope
por: Komagamine, Junpei
Publicado: (2018)

Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease
por: Wang, Xu, et al.
Publicado: (2019)

Morpho-physiological and biochemical attributes of Chili (Capsicum annum L.) genotypes grown under varying salinity levels
por: Butt, Madiha, et al.
Publicado: (2021)

Oxaliplatin-induced peripheral neurotoxicity in colorectal cancer patients: mechanisms, pharmacokinetics and strategies
por: Cheng, Fang, et al.
Publicado: (2023)

Mushrooms-Rich Preparations on Wound Healing: From Nutritional to Medicinal Attributes
por: Sharifi-Rad, Javad, et al.
Publicado: (2020)

Efficacy of Combined Topical Timolol and Oral Propranolol for Treating Infantile Hemangioma: A Meta-Analysis of Randomized Controlled Trials
por: Qiao, Junbo, et al.
Publicado: (2020)

Safety and pharmacokinetics of SPR206 in subjects with varying degrees of renal impairment
por: Bruss, Jon B., et al.
Publicado: (2023)

Sinapis Semen: A review on phytochemistry, pharmacology, toxicity, analytical methods and pharmacokinetics
por: Dang, Rui, et al.
Publicado: (2023)

Human papillomavirus infections among women with cervical lesions and cervical cancer in Eastern China: genotype-specific prevalence and attribution
por: Zhang, Lei, et al.
Publicado: (2017)

Exposure Characteristics of the Analogous β-Carboline Alkaloids Harmaline and Harmine Based on the Efflux Transporter of Multidrug Resistance Protein 2
por: Li, Shuping, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_o2ndbi5kbn9698ud8lp8j275gh