Daoqi Mei

Hypoactivity, abnormal development of dendrites relevant to impaired synaptic transmission of calretinin-expressing interneurons in the medial prefrontal cortex underlies social deficits of mouse model in autism

Mengyuan Chen, Ke Zhao, Chao Gao, Daoqi Mei et autres

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by core symptoms including impairments in social behavior and communication. The impaired excitatory and inhibitory signals have been implicated in the pathophysiology of social behavior deficits. Altered calretinin (CR)-containing GABAergic interneurons have been …

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Ertugliflozin improves animal behaviours associated with oxidative stress and inflammation in a BTBR T + Itpr3tf/J mouse model of autism

Xiaona Wang, Zhengqin Zhao, Limin Sun, Chao Gao et autres

Abstract Autism spectrum disorder is a neurodevelopmental condition typified by difficulties in social interactions, repetitive and restricted behaviour and heightened anxiety. Increasing evidence suggests that oxidative stress and neuroinflammatory processes are crucial in the development of these behavioural abnormalities. Ertugliflozin, a sodium-glucose …

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Identification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum

Daoqi Mei, Yu Gu, Bingbing Zhang, Shiyue Mei et autres

OBJECTIVE: To summarize the clinical characteristics of a cohort of nine Chinese children with GNAO1 encephalopathy and analyze their genotypes. METHODS: A retrospective study was conducted on nine children diagnosed with GNAO1 encephalopathy at the Neurology Department of two children's hospitals between …

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Deficiency of calretinin in prefrontal cortex causes behavioral deficits relevant to autism spectrum disorder in mice

Yaodong Zhang, Xiaotong Zhao, Chao Gao, Shengli Shi et autres

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by core symptoms including deficits in social interaction, repetitive and stereotyped behaviors, along with higher levels of anxiety and cognitive impairments. Previous studies demonstrate pronounced reduced density of calretinin (CR)-expressing GABAergic interneurons in …

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Genetic analysis of four cases of Poirier Bienvenu neurodevelopmental syndrome associated with CSNK2B variant

Yang Liu, Daoqi Mei, Yan Liu, Li Gao

BACKGROUND: CSNK2B deficiency underlies the pathogenesis of Poirier-Bienvenu neurodevelopmental syndrome (POBINDS). In this study, we present four cases of pediatric seizures caused by de novo variants in CSNK2B, with the aim to reinforce the clinical and variant data pertaining to early genetic …

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[A case of children autoimmune polyendocrine adenopathy syndrome type Ⅲ with anti GAD 65 antibody associated with encephalitis].

D D Zhang, Hao Wu, Ting Chen, Linlin Zhang et autres

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Somatostatin-expressing interneurons of prefrontal cortex modulate social deficits in the Magel2 mouse model of autism

Xiaona Wang, Mengyuan Chen, Daoqi Mei, Shengli Shi et autres

Dysfunction in social interactions is a core symptom of autism spectrum disorder (ASD). Nevertheless, the neural mechanisms underlying social deficits in ASD are poorly understood. By integrating electrophysiological, in vivo fiber photometry, viral-mediated tracing, optogenetic and pharmacological stimulation, we show reduced intrinsic …

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[Clinical characteristics and long-term follow-up study of basal ganglia infarction after minor head trauma in infants and young children].

Huan Xu, Chenchen Wu, Jihong Tang, Jun Feng et autres

OBJECTIVES: To investigate the clinical characteristics and prognosis of infants and young children with basal ganglia infarction after minor head trauma (BGIMHT). METHODS: A retrospective analysis was conducted on the clinical data and follow-up results of children aged 28 days to 3 …

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Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants

Xiaojing Yin, Jinghe Shi, Daoqi Mei, Jianmei Guo et autres

We report a case of a Chinese girl who presented with multiple seizure types of epilepsy, followed by motor and intellectual regression, vision impairment, and cerebral and cerebellar atrophy. She carries an unreported compound heterozygous variant of the ASAH1 gene and is …

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Genetic analysis of Poirier Bienvenu neurodevelopmental syndrome associated with CSNK2B variation

Yang Liu, Daoqi Mei, Yan Liu, Li Gao

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Case report: Second report of neuromuscular syndrome caused by biallelic variants in ASCC3

Xiaotian Li, Z. Li, Junhui Fu, Kaili Xu et autres

Introduction Activating Signal Cointegrator 1 Complex, Subunit 3 (ASCC3) has been implicated in the pathogenesis of neurodevelopmental disorders and neuromuscular diseases (MIM: 620700). This paper analyzes the clinical manifestations of three patients with developmental delay caused by ASCC3 genetic variation. Additionally, we …

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Heterozygous variants in USP25 cause genetic generalized epilepsy

Cui-Xia Fan, Xiao‐Rong Liu, Daoqi Mei, Bing-Mei Li et autres

USP25 encodes ubiquitin-specific protease 25, a key member of the deubiquitinating enzyme family that is involved in neural fate determination. Although abnormal expression in Down's syndrome was reported previously, the specific role of USP25 in human diseases has not been defined. In …

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