GRIN2D-Related Developmental and Epileptic Encephalopathy Associated With Polymorphic Seizures Including Epileptic Spasms [0.03%]
与癫痫痉挛等多形性发作相关的GRIN2D相关发育性和癫痫性脑病
L R Obregón Gómez,M Juanes,M S Touzon et al.
L R Obregón Gómez et al.
Alterations in genes involved in glutamatergic neurotransmission are associated with developmental and epileptic encephalopathies (DEE). One of the most extensively studied pathways involves N-methyl-D-aspartate receptors (NMDAR), which pla...
Modulation of Neuroinflammation and Nitrite Imbalance in the Hippocampus by Simvastatin: Therapeutic Potential in Maternal Separation-Induced Autism Spectrum Disorder [0.03%]
辛伐他丁对母子分离所致自闭症相关海马神经炎症和亚硝酸盐不平衡的调节作用：治疗潜力研究
Maryam Ghadiri,Zahra Vahed Dehkordi,Hosein Amini-Khoei
Maryam Ghadiri
Objectives: Autism spectrum disorder (ASD) is an increasingly occurring neurobiological condition. As a main risk factor, maternal separation (MS) stress has a role in the foundation of ASD. Simvastatin possessed neuropro...
Novel HUWE1-Related Neurodevelopmental Disorder: Genotypic and Phenotypic Expansion [0.03%]
新型HUWE1相关神经发育障碍：基因型和表型的扩展
Yanyan Dai,Jerry Zhang,Dandan Wu et al.
Yanyan Dai et al.
Background: The HUWE1 gene plays a crucial role in mediating embryonic development as well as the differentiation and proliferation of neural cells. Variants in the HUWE1 are closely associated with intellectual developme...
Caloric Restriction and Intermittent Fasting During Lactation Leads to Malnutrition, Hypothalamic Redox Imbalance and Impaired Glucose Metabolism in Male and Female Offspring of Wistar Rats [0.03%]
在乳鼠的韦斯达大鼠中，卡里克限制和间歇性禁食导致后代营养不良、下丘脑氧化还原失衡以及葡萄糖代谢受损
Jéssica Sena Gonçalves,Arthur Rocha-Gomes,Nícollas Costa Veloso et al.
Jéssica Sena Gonçalves et al.
The lactation period is considered fundamental in the development of offspring in relation to their metabolism, growth and brain maturation. However, it is also during this phase that the offspring are highly susceptible to changes triggere...
Serum Cingulin and Interleukin-6 Levels in Children With Specific Learning Disorder [0.03%]
学习障碍儿童血清cingulin和白细胞介素-6水平变化的研究
Orhan Kocaman,Erkan Maytalman
Orhan Kocaman
Background: This study examined cingulin and interleukin-6 (IL-6) levels in children with specific learning disorder (SLD) to explore their association with inflammation and tight junction-related barrier biological proce...
Unravelling GABA Dysfunction in Autism: Pathophysiological Insights and Emerging Treatments [0.03%]
解开自闭症中GABA功能障碍：病理生理学见解和新兴治疗方案
Nahi Sabih Alruwaili,Hayder M Al-Kuraishy,Esraa Hammadi Fahad et al.
Nahi Sabih Alruwaili et al.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition marked by deficits in social interaction, communication and repetitive behaviours. Emerging evidence implicates dysfunction in γ-aminobutyric acid (GABA) signalling, ...
Adolescent Vitamin D Supplementation Reverses Neuroplasticity and Motivational Deficits Induced by Developmental Alcohol Exposure and Early-Life Stress [0.03%]
维生素D补充可逆转发育期酒精暴露和早期生活压力诱导的神经可塑性和动机缺陷
Anelise Pereira Alves,Claudia Daniele Bianco,Clarice Mariano Fernandes et al.
Anelise Pereira Alves et al.
Early postnatal ethanol exposure (PNEE) and early-life stress (ELS) are major contributors to persistent deficits in cognition, motivation and emotional regulation. These insults disrupt hippocampal plasticity and increase vulnerability to ...
Effects of Maternal High-Fat Diet During Pregnancy and Lactation on Behaviour and Hypothalamic Orexin Neurons in Mice Offspring [0.03%]
高脂饮食对小鼠子代行为及下丘脑食欲素神经元的影响
Takumi Katsuragi,Takenori Tozawa,Shunji Yamada et al.
Takumi Katsuragi et al.
Background: Maternal obesity is a risk factor for neurodevelopmental disorders in the offspring. In recent years, it has been suggested that not only maternal obesity but also dietary intake during pregnancy and lactation...
No Association Between Autism Spectrum Disorder and Mitochondrial DNA Variants: A Comprehensive Genetic Study in Trakya Population [0.03%]
孤独症谱系障碍与线粒体DNA变异无关联：特拉克亚人群的全面遗传学研究
Hasan Cem Aykutlu,Engin Atlı,Leyla Bozatlı et al.
Hasan Cem Aykutlu et al.
Background: Autism spectrum disorder (ASD) has a strong genetic basis, yet specific etiological factors remain unidentified in the majority of cases. Mitochondrial DNA (mtDNA) variations have been hypothesized as potentia...
Prenatal Diagnosis of Radio-Tartaglia Syndrome Caused by a Loss-of-Function Variant in SPEN in a Chinese Family [0.03%]
SPEN失活变异导致的Radio-Tartaglia综合征的产前诊断（一例中国家系）
Yimin He,Li Gao,Shixuan Xu et al.
Yimin He et al.
Background: Radio-Tartaglia Syndrome (RATARS) is a rare autosomal dominant neurodevelopmental disorder caused by loss-of-function (LoF) variants in SPEN. It is characterized by global developmental delay, intellectual dis...