Results 41 to 50 of about 18,028 (242)
Autism Research, EarlyView.ABSTRACT Auditory mismatch responses—mismatch negativity (MMN) and mismatch fields (MMF)—are well established electrophysiological markers of automatic auditory discrimination supported by short‐term sensory memory. These responses, typically elicited using passive oddball paradigms, are increasingly used to investigate sensory and language processing ...
Sara Cacciato‐Salcedo +4 more
wiley +1 more source
Journal of Neurodevelopmental DisordersBackground With the advent of the first targeted therapy for Rett Syndrome (RTT), a comprehensive assessment of the journey of RTT is needed to elucidate on present unmet needs in this population.
Damian May +10 more
doaj +1 more source
The Digestive System and Nutritional Considerations for Individuals with Rett Syndrome
The Scientific World Journal, 2006 Rett syndrome (RS) is a neurodevelopmental syndrome of genetic origin that mainly affects females. Individuals diagnosed with RS exhibit a variety of functional difficulties that impair their quality of life.
Meir Lotan, Lilit Zysman
doaj +1 more source
Deficits in skilled motor and auditory learning in a rat model of Rett syndrome
Journal of Neurodevelopmental Disorders, 2020 Background Rett syndrome is an X-linked neurodevelopmental disorder caused by a mutation in the gene MECP2. Individuals with Rett syndrome display developmental regression at an early age, and develop a range of motor, auditory, cognitive, and social ...
Katherine S. Adcock +6 more
doaj +1 more source
Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome
Italian Journal of Pediatrics, 2022 Background Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking.
Sergio Ghirardo +10 more
doaj +1 more source
Epilepsia, EarlyView.Soticlestat as adjunctive therapy for Lennox–Gastaut syndrome. Abstract Objective There remains a need for new treatments for Lennox–Gastaut syndrome (LGS), a developmental and epileptic encephalopathy with a heterogenous patient population that often requires polytherapy. The phase 3, randomized SKYWAY study (NCT04938427) investigated the efficacy and
Renzo Guerrini +15 more
wiley +1 more source
Analysis of partner proteins of MeCP2 and their relevance to Rett syndrome [PDF]
, 2012 Methyl-CpG binding protein 2 (MeCP2) was discovered as a protein binding to methylated DNA more than 20 years ago. It is very abundant in the brain and was shown to be able to repress transcription.
Ekiert, Robert
core
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
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
An n‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition
Epilepsia, EarlyView.Abstract Objective Gain‐of‐function (GoF) variants in the KCNC1 potassium channel subunit gene (Kv3.1) cause motor/cognitive delays and hypotonia and have been associated with seizures. Fluoxetine has inhibitory effects on Kv3.1. However, open‐label nonrandomized administration is insufficient to guide clinical decision‐making in ultrarare conditions ...
Vedika Jha +13 more
wiley +1 more source