Autonomic manifestations of epilepsy: emerging pathways to sudden death?

RD Thijs, P Ryvlin, R Surges - Nature Reviews Neurology, 2021 - nature.com
Epileptic networks are intimately connected with the autonomic nervous system, as
exemplified by a plethora of ictal (during a seizure) autonomic manifestations, including …

The pathophysiology of rett syndrome with a focus on breathing dysfunctions

JM Ramirez, M Karlen-Amarante, JDJ Wang… - …, 2020 - journals.physiology.org
Rett syndrome (RTT), an X-chromosome-linked neurological disorder, is characterized by
serious pathophysiology, including breathing and feeding dysfunctions, and alteration of …

[HTML][HTML] Emotional behavioural and autonomic dysregulation (EBAD) in Rett syndrome–EDA and HRV monitoring using wearable sensor technology

L Gualniera, J Singh, F Fiori, P Santosh - Journal of psychiatric research, 2021 - Elsevier
Background Rett syndrome (RTT) is a severe genetic neurodevelopmental disorder.
Emotional, Behavioural and Autonomic Dysregulation (EBAD), is frequent in RTT and is …

Movement disorders in patients with R ett syndrome: A systematic review of evidence and associated clinical considerations

J Singh, E Lanzarini, N Nardocci… - Psychiatry and Clinical …, 2021 - Wiley Online Library
Aim This systematic review identified and thematically appraised clinical evidence of
movement disorders in patients with Rett syndrome (RTT). Method Using PRISMA criteria …

[HTML][HTML] An observational study of heart rate variability using wearable sensors provides a target for therapeutic monitoring of autonomic dysregulation in patients with …

J Singh, S Ameenpur, R Ahmed, S Basheer, S Chishti… - Biomedicines, 2022 - mdpi.com
Rett Syndrome (RTT) is a complex neurodevelopmental disorder that has multi-system
involvement with co-occurring epilepsy, breathing problems and autonomic dysregulation …

Breathing disturbances in Rett syndrome

JM Ramirez, M Karlen-Amarante, A Huff… - Handbook of clinical …, 2022 - Elsevier
Rett Syndrome is an X-linked neurological disorder characterized by behavioral and
neurological regression, seizures, motor deficits, and dysautonomia. A particularly …

[HTML][HTML] Cardiac autonomic control in Rett syndrome: Insights from heart rate variability analysis

R Cordani, E Tobaldini, GD Rodrigues… - Frontiers in …, 2023 - frontiersin.org
Rett syndrome (RTT) is a rare and severe neurological disorder mainly affecting females,
usually linked to methyl-CpG-binding protein 2 (MECP2) gene mutations. Manifestations of …

[HTML][HTML] The autism-associated Meis2 gene is necessary for cardiac baroreflex regulation in mice

J Roussel, R Larcher, P Sicard, P Bideaux… - Scientific Reports, 2022 - nature.com
Abstract Recent understanding of Autism Spectrum Disorder (ASD) showed that peripheral
primary mechanosensitive neurons involved in touch sensation and central neurons affected …

[HTML][HTML] JNK signaling provides a novel therapeutic target for Rett syndrome

CA Musi, AM Castaldo, AE Valsecchi, S Cimini… - BMC biology, 2021 - Springer
Background Rett syndrome (RTT) is a monogenic X-linked neurodevelopmental disorder
characterized by loss-of-function mutations in the MECP2 gene, which lead to structural and …

Inhibitory synaptic transmission is impaired in the Kölliker-Fuse of male, but not female, Rett Syndrome Mice

JR Whitaker-Fornek, PM Jenkins… - Journal of …, 2023 - journals.physiology.org
Rett syndrome (RTT) is a severe neurodevelopmental disorder that mainly affects females
due to silencing mutations in the X-linked MECP2 gene. One of the most troubling symptoms …