Results 71 to 80 of about 7,289,232 (294)

Prader-Willi-like phenotype in fragile X syndrome

, 1994
Prader-Willi-like phenotype in fragile X syndrome. Schrander-Stumpel C, Gerver WJ, Meyer H, Engelen J, Mulder H, Fryns JP. Department of Clinical Genetics, Maastricht University Hospital, The Netherlands.
Frijns, J.P., Gerver, W.J.M., Mulder, H., Schrander-Stumpel, C.T.R.M., Meyer, H., Engelen, J.J.M.   +5 more
core   +1 more source

Kv3.1 activation suppresses provoked and spontaneous seizures in a mouse Dravet syndrome model

Epilepsia, EarlyView.
Abstract Objective γ‐Aminobutyric acidergic (GABAergic) parvalbumin‐positive (PV+) interneurons are critical for maintaining cortical inhibitory tone, with their dysfunction predictably leading to epilepsy. Rapid PV+ interneuron firing is essential for their normal function and is maintained in part by potassium voltage‐gated channels.
Sheryl Anne D. Vermudez, Mustafa Q. Hameed, Yongho Choe, Gabrielle E. McGinty, Amanda M. Liebhardt, Rui Lin, Benjamin Hui, Yini Liang, David J. Arce, Henry H. C. Lee, Mustafa Sahin, Alexander Rotenberg   +11 more
wiley   +1 more source

Characterising Anxiety in Fragile X Syndrome

, 2023
This study aims to characterise the social profile of people with fragile X syndrome by investigating the behavioural, physiological, and cognitive indicators of social anxiety and social ...
Hayley Crawford, Jane Waite, Jessica Mingins, Kayla Smith   +3 more
core   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Epigenetic insights into Fragile X Syndrome

Frontiers in Cell and Developmental Biology
Fragile X Syndrome (FXS) is a genetic neurodevelopmental disorder closely associated with intellectual disability and autism spectrum disorders. The core of the disease lies in the abnormal expansion of the CGG trinucleotide repeat sequence at the 5′end ...
Liangqun Xie, Liangqun Xie, Huiying Li, MengLiang Xiao, Ningjing Chen, Xiaoxiao Zang, Yingying Liu, Hong Ye, Chaogang Tang   +8 more
doaj   +1 more source

Plot of Fragile X-associated tremor/ataxia syndrome scores.

, 2020
Plot of Fragile X-associated tremor/ataxia syndrome scores.
Elizabeth Berry-Kravis (366556), Joan A. O’Keefe (8259825), Bichun Ouyang (6754522), Erin E. Robertson (8447853), Andrew McAsey (8447859), Deborah A. Hall (8447850), Maureen Leehey (8447856)   +6 more
core   +1 more source

The multiple hit model of infantile and epileptic spasms: The 2025 update

Epilepsia Open, EarlyView.
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou, Wenzhu B. Mowrey, Wei Liu, Anna Maria Katsarou, Qianyun Li, Oleksii Shandra, Solomon L. Moshé   +6 more
wiley   +1 more source

Stress and self-concept in parents of children with fragile X-syndrome / Estresse e autoconceito em pais e mães de crianças com a síndrome do X-frágil

Psicologia: Reflexão e Crítica, 2008
The Fragile X Syndrome is the major inherited intellectual disability, superseded only by Down Syndrome, and it is transmitted mostly by females. Patients with Fragile X Syndrome show a set of physical, clinical, behavioral and cognitive features that ...
Zuleika Ana Cherubini, Cleonice Alves Bosa, Denise Ruschel Bandeira   +2 more
doaj  

Longitudinal Profiles of Adaptive Behavior in Fragile X Syndrome [PDF]

, 2014
To examine longitudinally the adaptive behavior patterns in fragile X ...
Hazlett, H. C., Jo, B., Lightbody, A. A., Klaiman, C., Piven, J., Reiss, A. L., Quintin, E.-M., Hall, S. S.   +7 more
core   +1 more source

Shared and Distinguishing Features of Late‐Onset Rheumatic Diseases Fulfilling Polymyalgia Rheumatica Classification Criteria

Arthritis &Rheumatology, EarlyView.
Kerem Abacar, Ala Altaie, Andrew Barr, Sarah L. Mackie, Kulveer Mankia, Dennis McGonagle   +5 more
wiley   +1 more source