Results 91 to 100 of about 3,757,153 (283)
Epilepsy and genetic in Rett syndrome: A review
Brain and Behavior, 2019 Rett syndrome (RTT) is a severe X‐linked neurodevelopmental disorder that primarily affects girls, with an incidence of 1:10,000–20,000. The diagnosis is based on clinical features: an initial period of apparently normal development (ages 6–12 months ...
F. Operto +4 more
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Monthly or menstrual? A scoping review of catamenial epilepsy and non‐menstrual seizure rhythms
Epilepsia, EarlyView.Abstract Objective Despite the reported high prevalence of catamenial epilepsy (CE), the condition remains poorly defined, with lack of consensus on what entails a menstrual‐related seizure exacerbation. Emerging evidence of multiday cycles of seizure activity, including about‐monthly cycles, present in both men and women, further confound the ...
Victoria Wong +4 more
wiley +1 more source
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey
Orphanet Journal of Rare DiseasesBackground Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers.
Walter E. Kaufmann +16 more
doaj +1 more source
Clinical Case Reports, 2019 Key Clinical Message The effects of orthopedic measures, with the exception of scoliosis surgery, are rarely described in individuals with Rett syndrome.
Lena Svedberg +2 more
doaj +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Frontiers in PediatricsRett syndrome, related to methyl-CpG binding protein 2 (MECP2), primarily affects females, though recent studies have identified additional causative genes, such as IQ motif and SEC7 domain-containing protein 2 (IQSEC2), which mainly affect males and are
Li Cheng +9 more
doaj +1 more source
New insights into epileptic spasm generation and treatment from the TTX animal model
Epilepsia Open, EarlyView.Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann +2 more
wiley +1 more source
Psychiatry and Clinical Psychopharmacology, 2021 The purpose of this article is to review the diagnostic procedures and genetic analysis in making differential diagnosis of a case having similar symptoms of Rett and Angelman syndromes.
Tümer Türkbay +2 more
doaj
Rett syndrome: insights into genetic, molecular and circuit mechanisms
Nature Reviews Neuroscience, 2018 Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). Almost two decades of research into RTT have greatly advanced our understanding of the function and regulation of the ...
Jacque P. K. Ip, N. Mellios, M. Sur
semanticscholar +1 more source
NeuroMolecular Medicine, 2014 Rett syndrome (RTT) is a severe and progressive neurological disorder, which mainly affects young females. Mutations of the methyl-CpG binding protein 2 (MECP2) gene are the most prevalent cause of classical RTT cases. MECP2 mutations or altered expression are also associated with a spectrum of neurodevelopmental disorders such as autism spectrum ...
Vichithra R B, Liyanage +1 more
openaire +2 more sources