Results 181 to 190 of about 609,740 (304)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley   +1 more source

Vagal Nerve Stimulation and Critical Care Management Challenges for Status Epilepticus in a Pregnant Patient With Focal Cortical Dysplasia: Case Report

Case Reports in Critical Care
Evelin Zulema Camacho-Castillo, Daniel San-Juan, Jocelyn Cruz-Pérez, Jorge Alejandro Zepeda-Pérez, Miguel Benjamin Cervera-Sánchez, Yazmin Palomares-Salazar, Guillermo Axayacalt Gutiérrez-Aceves   +6 more
doaj   +1 more source

American Epilepsy Society Clinical Practice Guideline: Infantile Epilepsy. [PDF]

Epilepsy Curr
Freedman D, Babatunde I, Morgan RL, Abu-Sawwa R, Albert D, Behbahani M, Chapman K, Fecske E, Gaillard WD, Jones M, Meskis MA, Myers LS, Nye K, Oluigbo C, Pfeifer HH, Shellhaas RA, Thompson L, Weiner HL, Wusthoff CJ, Yozawitz E.   +19 more
europepmc   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Investigation of the implementation and utilization of ketogenic diet therapy in China : For the Commission on Standardized Development of Epilepsy Centers and Commission on Ketogenic Diet, China Association Against Epilepsy. [PDF]

Acta Epileptol
Xi W, Lin Y, Tian S, Liao J, Wang Y.
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

A Stroke of Insight? Possible Bidirectional Relationship Between Stroke and Epilepsy. [PDF]

Epilepsy Curr
Terman SW.
europepmc   +1 more source

‘Turkeys Cannot Vote for Christmas’: Why Epistemic Disobedience in an Anti‐Black World Matters

Australian Journal of Social Issues, EarlyView.
ABSTRACT Never in the history of global coloniality has the idea of epistemic disobedience been as important as in the 21st century. This is not only because the struggle for decolonisation has shifted from physical confrontation between the coloniser and the colonised into a battle of ideas but also because the former has deployed the idea of ...
Morgan Ndlovu
wiley   +1 more source

Clinical characteristics and factors associated with psychiatric comorbidity among people with epilepsy in Ganzi Tibetan autonomous prefecture of China: a cross-sectional study. [PDF]

Acta Epileptol
Wang C, Chen D, Zhao L, Liu F, Zhang L, Liu X, Liu L.   +6 more
europepmc   +1 more source