A rare case report of Huntington's disease with severe psychiatric symptoms as initial manifestations [0.03%]
罕见的以严重的精神病症状为初期表现的亨廷顿氏舞蹈病病例报告
Chenling Lv,Zhenzhong Zhang,Yan Zhang et al.
Chenling Lv et al.
Introduction: Huntington's disease (HD) stands as an inherited and progressive neurodegenerative ailment distinguished by chorea-esque movement patterns, which manifest as archetypal symptoms. The presence of pronounced p...
Anton Iftimovici,Angeline Charmet,Béatrice Desnous et al.
Anton Iftimovici et al.
KCNQ2 mutations are a common cause of early-onset epileptic syndromes. They are associated with heterogeneous developmental profiles, from mild to severe cognitive and social impairments that need better characterization. We report a case o...
22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder [0.03%]
涉及SHANK3基因的22q13.33重复片段一名持续性语言及构音障碍的男孩及其母亲
Elisa Granocchio,Eleonora Pollina,Marinella De Salvatore et al.
Elisa Granocchio et al.
Patients carrying 22q13.33 duplication present variable neurodevelopmental phenotype. Among these, patients with genetic alteration disrupting SHANK3 gene are very rare and they also present neurodevelopmental disorder such as autism spectr...
Discriminative features in White-Sutton syndrome: literature review and first report in Iran [0.03%]
白 Sutton 综合征的鉴别特征：文献复习及伊朗首例报道
Emran Esmaeilzadeh,Aysan Jafari Harandi,Fatemeh Astaraki et al.
Emran Esmaeilzadeh et al.
White-Sutton Syndrome is one of the rare neurodevelopmental disorder inherited in an autosomal dominant manner, mainly caused by de novo mutations in the POGZ gene and shows many phenotypic signs such as intellectual disability, Autism Spec...
Maternal 15q11.2-q13.1 duplication syndrome-associated psychosis and mania: a new case and review of the literature [0.03%]
母系15q11.2-q13.1重复综合征相关精神病和躁狂症：一例报告及文献复习
Mark Ainsley Colijn,Christopher S Smith,Mary Ann Thomas
Mark Ainsley Colijn
Maternal 15q11.2-q13.1 duplication syndrome is associated with a variety of developmental and neuropsychiatric abnormalities. Although schizophrenia-like presentations have been reported, details pertaining to the nature of the correspondin...
Chromatin gatekeeper and modifier CHD proteins in development, and in autism and other neurological disorders [0.03%]
自闭症和其它神经发育障碍中的染色质调控蛋白CHDs在发育中的作用
Tahir Muhammad,Stephen F Pastore,Katrina Good et al.
Tahir Muhammad et al.
Chromatin, a protein-DNA complex, is a dynamic structure that stores genetic information within the nucleus and responds to molecular/cellular changes in its structure, providing conditional access to the genetic machinery. ATP-dependent ch...
Genome-wide association study of antisocial personality disorder diagnostic criteria provides evidence for shared risk factors across disorders [0.03%]
个性广泛性关联分析提供跨疾病的共享风险因素的证据
Wenqianglong Li,Hang Zhou,Johan H Thygesen et al.
Wenqianglong Li et al.
Introduction: While progress has been made in determining the genetic basis of antisocial behaviour, little progress has been made for antisocial personality disorder (ASPD), a condition that often co-occurs with other ps...
Case of twin achondroplasia and autism coexistence and literature review [0.03%]
同型软骨发育不全合并自闭症病例报道及文献复习
Nagehan Bilgeç,Özgür Balasar,Necati Uzun et al.
Nagehan Bilgeç et al.
Achondroplasia and autism spectrum disorder (ASD) are two genetically based disorders. The coexistence of autism with chromosomal abnormalities such as Down syndrome, monogenic syndromes such as tuberous sclerosis, Fragile X, and Rett syndr...
Two novel variants of the STXBP1 and CHRNB2 genes identified in a Chinese boy with refractory seizures and developmental delay [0.03%]
在中国一名伴有难治性癫痫发作和发育迟缓的男孩中鉴定出STXBP1和CHRNB2基因的两种新变异型
Sanmei Wang,Di Cui,Xiuxin Ling et al.
Sanmei Wang et al.
Autosomal dominant sleep-related hypermotor epilepsy is a rare disease caused by pathogenic variants of CHRNB2, CHRNA4, and CHRNA2 genes, with nocturnal frontal lobe epilepsy as the main symptoms. Syntaxin binding protein 1 (STXBP1) gene mu...
Two novel variants of the STXBP1 and CHRNB2 genes identified in a Chinese boy with refractory seizures and developmental delay [0.03%]
在一名中国难治性癫痫和发育障碍患儿中发现两个新的STXBP1和CHRNB2基因变异
Sanmei Wang,Di Cui,Xiuxin Ling et al.
Sanmei Wang et al.
Autosomal dominant sleep-related hypermotor epilepsy is a rare disease caused by pathogenic variants of CHRNB2, CHRNA4, and CHRNA2 genes, with nocturnal frontal lobe epilepsy as the main symptoms. Syntaxin binding protein 1 (STXBP1) gene mu...