Results 41 to 50 of about 18,037 (234)

Rett syndrome: a clinical case [PDF]

, 2021
Background. Rett syndrome is a rare genetic disorder often mimicked by variant other illnesses, which hampers its timely diagnosis. Although knowledge of this pathology has grown remarkably over the past two decades, an appropriate diagnosis is necessary
A. S. Ivanenko, A. V. Burlutskaya, A. V. Statova   +2 more
core   +2 more sources

Development of trofinetide for the treatment of Rett syndrome: from bench to bedside

Frontiers in Pharmacology
Rett syndrome (RTT) is rare neurodevelopmental disorder caused by mutations in the MECP2 gene that encodes methyl-CpG-binding protein 2 (MeCP2), a DNA-binding protein with roles in epigenetic regulation of gene expression.
Melissa Kennedy, Larry Glass, Daniel G. Glaze, Steve Kaminsky, Alan K. Percy, Jeffrey L. Neul, Nancy E. Jones, Daniela Tropea, Joseph P. Horrigan, Paige Nues, Kathie M. Bishop, James M. Youakim   +11 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

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database

Journal of Neurodevelopmental Disorders
Background 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, Kalé Kponee-Shovein, Jeffrey L. Neul, Alan K. Percy, Malena Mahendran, Nathaniel Downes, Grace Chen, Talissa Watson, Dominique C. Pichard, Melissa Kennedy, Patrick Lefebvre   +10 more
doaj   +1 more source

How reconstructive surgery combined with physiotherapy for a painful nontraumatic patellar dislocation enabled a woman with Rett syndrome to become pain free and remain physically active: A case report

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, Bengt Herngren, Piotr Michno   +2 more
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, Abigail E. Blount, Robert A. Morrison, Amanda Alvarez-Dieppa, Michael P. Kilgard, Crystal T. Engineer, Seth A. Hays   +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, Letizia Sabatini, Alessandro Onofri, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Daria Diodato, Lorena Travaglini, Fabrizia Stregapede, Marta Luisa Ciofi degli Atti, Claudio Cherchi, Renato Cutrera   +10 more
doaj   +1 more source

Effectiveness and tolerability of fenfluramine in pediatric and adult patients with developmental and epileptic encephalopathies: A multicenter, retrospective, real‐world clinical‐practice study

Epilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by drug‐resistant seizures and developmental slowing/regression. We examined the efficacy and tolerability of fenfluramine (FFA) in pediatric and adult patients with Lennox–Gastaut syndrome (LGS), Dravet syndrome (DS), and other DEEs.
Vicente Villanueva, Elena González‐Alguacil, Patricia Smeyers, Sara Hernández, Victor Soto‐Insuga, Alejandro Fernández‐Cabrera, Laura Olivié, Teresa de Santos, Beatriz Parejo, Lucas Iacampo, Belén Ortuño, Javier Aparicio, Montserrat Fuentes, Juan Rodriguez‐Uranga, Paula Martínez‐Agredano, José Carlos Estévez, Angel Aledo‐Serrano, Rocio Martin‐Alvarez, David Conejo, Belen Baena, Blanca Mercedes‐Álvarez, Yolanda López, Alba Sierra‐Marcos, Rocio Trincado‐Lamuño, Mouna Ennazeh, Jesús González de la Aleja, Julia Renau, Maria Dolores Castro‐Vilanova, Fátima Romero‐Aguilera, José M. Serratosa   +29 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