Results 51 to 60 of about 18,037 (234)
Pediatric Neurology Briefs, 1987 The sleep and respiratory patterns associated with this disorder have been studied in 11 females aged 2 through 15 years at the Methodist Hospital, Houston, Tx.
openaire +4 more sources
Epilepsia, EarlyView.Abstract This article summarizes data for 13 investigational treatments for which at least preliminary seizure outcome data in patients with epilepsy were reported at the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices held in Madrid, Spain, on May 3–6, 2026.
Meir Bialer +7 more
wiley +1 more source
Increased susceptibility to dicarbonyl stress in Rett syndrome [PDF]
, 2018 Rett syndrome (RTT) is a rare neurodevelopmental disorder, resulting from mutations in the Xlinked methyl-CpG-binding protein 2 (MECP2) gene. Recent studies have shown that oxidative stress (OS) and subclinical inflammatory status play a key role in RTT
Pecorelli A. +9 more
core
, 2022 The purpose of this paper is to explore the causes, characteristics, and interventions associated with Rett ...
Boyd, Susan V.
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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
Molecular Diagnosis of Rett Syndrome [PDF]
, 2005 In 1999, mutations in the MECP2 gene were identified as the primary cause of Rett syndrome. MECP2 mutations can be found in 70% to 80% of all clinically defined Rett syndrome cases; in classic Rett syndrome, this frequency is even higher.
Gärtner, Jutta, Huppke, Peter
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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
MUSIC THERAPY IN RETT SYNDROME CASES [PDF]
, 2018 Rett syndrome is a rare (0,01%) genetic disorder affecting girls\u27 development. Individuals with Rett syndrome experience a full range of health problems that severely influence and complicate their mobility, intellect, communication, learning, and ...
Vita Andziule +5 more
core +4 more sources
Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials
Brain SciencesRett syndrome (RTT) is a neurological disorder that mostly affects females, with a frequency of 1 in 10,000 to 20,000 live birth cases. Symptoms include stereotyped hand movements; impaired learning, language, and communication skills; sudden loss of ...
Adele Gaspar Lopes +2 more
doaj +1 more source
Engineering, 2022 Rett syndrome is a progressive neurodevelopmental disorder that lacks effective treatments. Although deep-brain stimulation can alleviate some symptoms in Rett model mice, this interventional manipulation requires deliberate surgical operations. Here, we
Yanhong Sun +16 more
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