Epilepsy in Rett syndrome--lessons from the Rett networked database

Epilepsia
Andreea NissenkornB Ben-Zeev

Abstract

Rett syndrome is an X-linked dominant neurodevelopmental disorder caused by mutations in the MECP2 gene, and characterized by cognitive and communicative regression, loss of hand use, and midline hand stereotypies. Epilepsy is a core symptom, but literature is controversial regarding genotype-phenotype correlation. Analysis of data from a large cohort should overcome this shortcoming. Data from the Rett Syndrome Networked Database on 1,248 female patients were included. Data on phenotypic and genotypic parameters, age of onset, severity of epilepsy, and type of seizures were collected. Statistical analysis was done using the IBM SPSS Version 21 software, logistic regression, and Kaplan-Meier survival curves. Epilepsy was present in 68.1% of the patients, with uncontrolled seizures in 32.6% of the patients with epilepsy. Mean age of onset of epilepsy was 4.68 ± (standard deviation) 3.5 years. Younger age of onset was correlated to severity of epilepsy (Spearman correlation r = 0.668, p < 0.01). Patients with late truncating deletions had lower prevalence of epilepsy. Compared to them, the p.R133C mutation, associated with a milder Rett phenotype, increased the risk for epilepsy (odds ratio [OR] 2.46, confidence interval [CI] 95%...Continue Reading

References

Oct 3, 2006·The Journal of Pediatrics·Le JianHelen Leonard
Dec 21, 2006·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Peter HuppkeJutta Gärtner
Apr 17, 2007·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Le JianHelen Leonard
Jun 15, 2007·Child and Adolescent Psychiatric Clinics of North America·Bruria Ben Zeev Ghidoni
Feb 16, 2010·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Sabrina BuoniJoseph Hayek
Mar 17, 2010·Neurology·D G GlazeH-S Lee
May 25, 2010·Epilepsia·Andreea NissenkornBruria Ben Zeev
Aug 24, 2010·Epilepsy & Behavior : E&B·Maria PintaudiEdvige Veneselli
Jul 19, 2011·Seizure : the Journal of the British Epilepsy Association·Basil CardozaMike Kerr
Feb 21, 2013·Developmental Medicine and Child Neurology·Xinhua BaoHelen Leonard
Jun 4, 2013·Neural Networks : the Official Journal of the International Neural Network Society·Sinisa ColicBerj L Bardakjian
Jun 19, 2013·Nature Neuroscience·Matthew J LystAdrian Bird
Jan 9, 2014·Journal of Medical Genetics·Vishnu Anand CuddapahMichelle L Olsen

❮ Previous
Next ❯

Citations

Jul 31, 2016·Pediatric Neurology·Vinita Misra KnightShannon M Standridge
Jul 23, 2016·Nature Reviews. Neurology·Katherine C NickelsElaine C Wirrell
Sep 30, 2016·Orphanet Journal of Rare Diseases·G PiniM Zappella
Dec 10, 2016·Nature Reviews. Neurology·Helen LeonardJenny Downs
Dec 23, 2016·Brain : a Journal of Neurology·Daniel C TarquinioDaniel G Glaze
Feb 7, 2017·Expert Opinion on Orphan Drugs·Walter E KaufmannSteven A Skinner
Apr 26, 2020·European Journal of Human Genetics : EJHG·Susanna CrociIlaria Meloni
Aug 29, 2019·International Journal of Molecular Sciences·Elisa Borghi, Aglaia Vignoli
Dec 25, 2019·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Alfredo Gonzalez-Sulser
Mar 26, 2021·Journal of Intellectual Disability Research : JIDR·Y Y L LaiH Leonard
Jun 3, 2021·International Journal of Molecular Sciences·Kirill SmirnovOlga Sysoeva
May 26, 2021·Oral Diseases·Yvonne Yee Lok LaiHelen Margaret Leonard
Dec 1, 2017·ACS Chemical Neuroscience·Wendy A GoldJohn Christodoulou

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.