Results 71 to 80 of about 12,609 (254)

Narcolepsy and rapid eye movement sleep

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini, Lucie Barateau, Fabio Pizza, Giuseppe Plazzi, Yves Dauvilliers   +4 more
wiley   +1 more source

A couple of the first cousins born with hypotonia and maternal polyhydramnios

Clinical Case Reports
Key Clinical Message Congenital myotonic dystrophy should be considered in hypotonic infants with polyhydramniotic mothers with a positive history of myotonia.
Mousa Ahmadpour‐kacho, Yadollah Zahed Pasha, Samira Pournajaf   +2 more
doaj   +1 more source

Genetically Confirmed Schwartz–Jampel Syndrome: An Ultra-Rare Case of Congenital Myotonia with Osteochondrodysplasia from India

International Journal of Medical Students
Background: Schwartz–Jampel syndrome is a rare autosomal recessive disorder caused by mutations in the HSPG2 gene, leading to perlecan deficiency. Perlecan is a heparan sulfate proteoglycan critical for cartilage integrity, basement membrane stability ...
Nandita Jali, Suvarna Magar, Tanya Trikha, Varsha Vaidya, Viranchi Vaidya   +4 more
doaj   +1 more source

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

Epilepsia Open, 2019
SCN4A gene mutations cause a number of neuromuscular phenotypes including myotonia. A subset of infants with myotonia‐causing mutations experience severe life‐threatening episodic laryngospasm with apnea.
Dilşad Türkdoğan, Emma Matthews, Sunay Usluer, Aslı Gündoğdu, Kayıhan Uluç, Roope Mannikko, Michael G. Hanna, Sanjay M. Sisodiya, Hande S. Çağlayan   +8 more
doaj   +1 more source

Sleep Macrostructure, Cyclic Alternating Pattern and CSF Cytokines in De Novo Relapsing–Remitting Multiple Sclerosis: A Controlled Polysomnographic Study

Journal of Sleep Research, EarlyView.
ABSTRACT Multiple sclerosis is frequently associated with sleep disorders. This study aimed to evaluate subjective and objective sleep parameters in de novo relapsing–remitting multiple sclerosis patients compared to healthy controls and to explore correlations with cerebrospinal fluid cytokines.
A. Romigi, M. Stampanoni Bassi, M. Caccamo, L. Gilio, F. Ceriello, A. Finardi, G. Vitrani, I. Rosenzweig, R. Furlan, F. Buttari, D. Centonze   +10 more
wiley   +1 more source

Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients

Human Mutation, 2016
Mutations in the gene coding for the skeletal muscle Cl− channel (CLCN1) lead to dominant or recessive myotonia. Here, we identified and characterized CLCN1 mutations in Costa Rican patients, who had been clinically diagnosed with myotonic dystrophy type
Rebeca Vindas-Smith, M. Fiore, Melissa Vásquez, P. Cuenca, G. del Valle, L. Lagostena, Héctor Gaitán-Peñas, R. Estévez, M. Pusch, F. Morales   +9 more
semanticscholar   +1 more source

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells

FEBS Open Bio, Volume 16, Issue 1, Page 178-198, January 2026.
We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel, Mekala Gunasekaran, Audrey L. Daugherty, Natalya M. Wells, Johnnie Turner, Christine C. Bruels, Christina A. Pacak, Isabelle Draper, Peter B. Kang   +8 more
wiley   +1 more source

Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion

Balkan Journal of Medical Genetics, 2018
Myotonic dystrophy type 2 (MD2) is a multisystem disease, predominantly affecting the proximal limb muscles, eyes, endocrine organs, heart and intestines. Longterm asymptomatic creatine kinase (hyper-CKemia) of more than 20 years duration, in association
Finsterer J, Stöllberger C, Reining-Festa A, Loewe-Grgurin M, Gencik M   +4 more
doaj   +1 more source

Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

The FASEB Journal, 2016
Myotonia congenita is an inherited disease that is characterized by impaired muscle relaxation after contraction caused by loss‐of‐function mutations in the skeletal muscle ClC‐1 channel. We report a novel ClC‐1 mutation, T335N, that is associated with a
P. Imbrici, C. Altamura, G. Camerino, G. Mangiatordi, E. Conte, L. Maggi, R. Brugnoni, K. Musaraj, R. Caloiero, Domenico Alberga, R. M. Marsano, G. Ricci, G. Siciliano, O. Nicolotti, M. Mora, P. Bernasconi, J. Desaphy, R. Mantegazza, D. Camerino   +18 more
semanticscholar   +1 more source

Electrophysiological evaluation in myotonic dystrophy: correlation with CTG length expansion

Arquivos de Neuro-Psiquiatria, 2001
In myotonic dystrophy (MD), disease severity has been correlated with expansion of CTG repeats in chromosome 19. The aims of this study were to evaluate efficacy of electromyography in the diagnosis of MD, access the frequency and the characteristics of ...
Pfeilsticker Beatriz Helena Miranda, Bertuzzo Carmen Sílvia, Nucci Anamarli   +2 more
doaj