Cargando…

Sodium channel myotonia may be associated with high-risk brief resolved unexplained events

Brief resolved unexplained events (BRUEs) have numerous and varied causes posing a challenge to investigation and management. A subset of infants with the neuromuscular disorder sodium channel myotonia, due to mutations in the SCN4A gene, experience apnoeic events due to laryngospasm (myotonia) of t...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cea, Gabriel, Andreu, Daniel, Fletcher, Elaine, Ramdas, Sithara, Sud, Richa, Hanna, Michael G., Matthews, Emma
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	F1000 Research Limited 2020
Materias:	Clinical Practice Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7241273/ https://www.ncbi.nlm.nih.gov/pubmed/32509969 http://dx.doi.org/10.12688/wellcomeopenres.15798.2

Ejemplares similares

Isolated eyelid closure myotonia in two families with sodium channel myotonia
por: Stunnenberg, B. C., et al.
Publicado: (2009)

Myotonia Acquisita
por: Gour, K. N.
Publicado: (1951)

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia
por: Suetterlin, Karen, et al.
Publicado: (2021)

Anesthetic management of a patient with sodium-channel myotonia: a case report
por: Matsumoto, Naohisa, et al.
Publicado: (2019)

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in Na(V)1.4
por: Luo, Sushan, et al.
Publicado: (2018)

Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation
por: Trip, J., et al.
Publicado: (2007)

Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker
Publicado: (1996)

Intussusception Initially Diagnosed as a Brief Resolved Unexplained Event (BRUE)
por: Atsumi, Yukari, et al.
Publicado: (2023)

Chloride Channel Mutations Leading to Congenital Myotonia
por: Nik, Amir, et al.
Publicado: (2022)

A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia
por: Ørstavik, Kristin, et al.
Publicado: (2015)

Sodium Channel Myotonia Due to Novel Mutations in Domain I of Na(v)1.4
por: Pagliarani, Serena, et al.
Publicado: (2020)

Inhibiting persistent inward sodium currents prevents myotonia
por: Hawash, Ahmed A., et al.
Publicado: (2017)

Fatigue-inducing stimulation resolves myotonia in a drug-induced model
por: van Lunteren, Erik, et al.
Publicado: (2011)

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation
por: Thor, Michael G., et al.
Publicado: (2019)

Gastro-oesophageal reflux is not a major cause of brief resolved unexplained events in infants
por: Jilani, Nadeem Z., et al.
Publicado: (2019)

Ocular Myotonia
por: Ashworth, Bryan
Publicado: (1975)

Myotonia Atrophica
por: Bramwell, Edwin, et al.
Publicado: (1913)

Preclinical evaluation of marketed sodium channel blockers in a rat model of myotonia discloses promising antimyotonic drugs
por: Desaphy, Jean-François, et al.
Publicado: (2014)

Investigation of bifurcation properties of a model of myotonia caused by incomplete inactivation of sodium channels in skeletal muscle fibers
por: Kocharoen, Kamonwan, et al.
Publicado: (2007)

Diagnostic Evaluation Low Yield for Patients with a Lower-Risk Brief Resolved Unexplained Event
por: Haddad, Rita, et al.
Publicado: (2021)

Thomsen and myotonia congenita.
por: Johnson, J
Publicado: (1968)

Mutations, molecules, and myotonia
Publicado: (1996)

The Characteristics of Esophageal Multichannel Intraluminal Impedance-PH Measurements in Infants Experiencing Brief Resolved Unexplained Events
por: Jarasvaraparn, Chaowapong, et al.
Publicado: (2018)

The Role of Combined Multichannel Intraluminal Impedance-pH Monitoring in Infants with Brief, Resolved, Unexplained Events
por: Pavić, Ivan, et al.
Publicado: (2021)

Changes of Resurgent Na(+) Currents in the Na(v)1.4 Channel Resulting from an SCN4A Mutation Contributing to Sodium Channel Myotonia
por: Huang, Chiung-Wei, et al.
Publicado: (2020)

Severe Brief Resolved Unexplained Event in a Newborn Infant in Association with Maternal Sertralin Treatment during Pregnancy
por: Pocivalnik, Mirjam, et al.
Publicado: (2018)

Myotonia Congenita. Thomsen's Disease
por: Variava, N. S.
Publicado: (1949)

Bodybuilding championships and myotonia congenita
por: Rohani, Mohammad, et al.
Publicado: (2016)

Myotonia Congenita (Thomsen's Disease)
por: Chand, Amir, et al.
Publicado: (1945)

Physiology and Pathophysiology of CLC-1: Mechanisms of a Chloride Channel Disease, Myotonia
por: Tang, Chih-Yung, et al.
Publicado: (2011)

Myotonia Congenita Mutation Enhances the Degradation of Human CLC-1 Chloride Channels
por: Lee, Ting-Ting, et al.
Publicado: (2013)

Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias()
por: Morrow, Jasper M., et al.
Publicado: (2013)

A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH-Sensitivity in Skeletal Muscle Voltage-gated Sodium Channels
por: Ghovanloo, Mohammad-Reza, et al.
Publicado: (2018)

Sodium, Potassium, and Chloride Fluxes in Intercostal Muscle from Normal Goats and Goats with Hereditary Myotonia
por: Lipicky, R. J., et al.
Publicado: (1966)

Autosomal recessive myotonia congenita in sheep
por: Moore, GA, et al.
Publicado: (1997)

A Detailed Clinical Approach to Non-dystrophic Myotonia: A Case Report of Two Brothers With Myotonia Congenita
por: Gilitwala, Zainab, et al.
Publicado: (2023)

Clinical Characteristics and Outcomes of Patients Admitted with Brief Resolved Unexplained Events to a Tertiary Care Pediatric Intensive Care Unit
por: Alhaboob, Ali A
Publicado: (2020)

A primary care Symptoms Clinic for patients with medically unexplained symptoms: pilot randomised trial
por: Burton, Christopher, et al.
Publicado: (2012)

A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness - exclusion of CLCN1 exon deletion/duplication by MLPA
por: Lehmann-Horn, F., et al.
Publicado: (2011)

Management of Infants with Brief Resolved Unexplained Events (BRUE) and Apparent Life-Threatening Events (ALTE): A RAND/UCLA Appropriateness Approach
por: Prezioso, Giovanni, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_u45ana7tv1di21h7s1n136ulki