Navigation Links
Gene mutations linked to most cases of rare disorder -- Alternating Hemoplegia of Childhood
Date:7/30/2012

(SALT LAKE CITY)Alternating hemiplegia of childhood (AHC) is a rare disorder that usually begins in infancy, with intermittent episodes of paralysis and stiffness, first affecting one side of the body, then the other. Symptoms mysteriously appear and disappear, again and again, and affected children often experience dozens of episodes per week. As they get older, children fall progressively behind their peers in both intellectual abilities and motor skills, and more than half develop epilepsy. Unfortunately, medications that work for epilepsy have been unsuccessful in controlling the recurrent attacks of paralysis, leaving parents and physicians with few options, and significantly disabling those affected.

Researchers at the University of Utah Departments of Neurology and Human Genetics, in collaboration with researchers at Duke University Medical Center, have discovered that mutations in the ATP1A3 gene cause the disease in the majority of patients with a diagnosis of AHC. The study was published online on Sunday, July 29, 2012, in Nature Genetics.

In a collaborative effort with the AHC Foundation, Kathryn J. Swoboda, M.D., co-first author on the study, associate professor of neurology and pediatrics, and director of the Pediatric Motor Disorders Research Program at the University of Utah, established an international database of patients with AHC from around the world, starting with a single family nearly 14 years ago. This database now includes 200 affected individuals from more than a dozen countries. Access to clinical information and DNA samples from this database were critical to the success of the international collaboration that helped to identify the first gene causing AHC in a significant percentage of patients.

"AHC is almost always a sporadic disease, which means that there is no family history of the disorder," says Tara Newcomb, genetic counselor, University of Utah Department of Neurology, and a co-author of t
'/>"/>

Contact: Phil Sahm
phil.sahm@hsc.utah.edu
801-581-2517
University of Utah Health Sciences
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. BRG1 mutations confer resistance to hormones in lung cancer
2. Gene mutations cause massive brain asymmetry
3. Interacting mutations promote diversity
4. Mutations in autism susceptibility gene increase risk in boys
5. UMMS researchers isolate gene mutations in patients with inherited amyotrophic lateral sclerosis
6. New gene mutations linked to ALS and nerve cell growth dysfunction
7. Key mutations discovered for most common childhood brain cancer
8. BGI reports the latest finding on NMNAT1 mutations linked to Leber congenital amaurosis
9. Exposure to antibiotics linked to severity of allergic asthma: UBC research
10. Autism risk gene linked to differences in brain structure
11. Spontaneous gene glitches linked to autism risk with older dads
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/19/2014)... regulate their symbiotic relationship with soil bacteria by ... plant structure from leaves into the roots to ... roots. This collaborative study was conducted by researchers ... Graduate University for Advanced Studies (SOKENDAI), and the ... , Legumes, an important plant family which ...
(Date:9/18/2014)... Miranda, a small, icy moon of Uranus, is ... in the solar system. Despite its relatively small size, ... resurfacing that resulted in the formation of at least ... called coronae. , These coronae are visible in ... 200 km across. Arden corona, the largest, has ridges ...
(Date:9/18/2014)... starts a "frequent flyers" program, fruit flies surely would ... has hosted increasing numbers of fruit fly research studies. ... in April, and another is scheduled launch to the ... launch in December. , Fruit flies are biomedical research ... space. Model organisms can reveal the basis for health ...
Breaking Biology News(10 mins):For legume plants, a new route from shoot to root 2Miranda: An icy moon deformed by tidal heating 2Miranda: An icy moon deformed by tidal heating 3Miranda: An icy moon deformed by tidal heating 4Miranda: An icy moon deformed by tidal heating 5Miranda: An icy moon deformed by tidal heating 6Miranda: An icy moon deformed by tidal heating 7Buzzing with activity: Fruit flies orbit Earth for science 2Buzzing with activity: Fruit flies orbit Earth for science 3Buzzing with activity: Fruit flies orbit Earth for science 4
... a type of cell that is the "missing link" between bone ... system, a finding that will lead to a greater understanding of ... lead to poor immune function. The studies were done using ... blood during postnatal life. "We felt it was especially important ...
... for treating burn victims to a technique for detecting ... now being developed with support from the University of ... program announced that it is awarding funding to five ... to improve health care. The new funding is ...
... New research published in BioMed Central,s open access journal ... into an ornamental plant ( Pelargonium ), can produce long-lived ... have been cultivated in Europe since the 17th century and ... plants around the world. They have been selectively bred to ...
Cached Biology News:UCLA researchers discover missing link between stem cells and immune system 2UCLA researchers discover missing link between stem cells and immune system 3MU celebrates $5 million partnership for advancing biomedical discoveries 2MU celebrates $5 million partnership for advancing biomedical discoveries 3No more sneezing, allergen-free house plants 2
(Date:9/18/2014)... HealthTronics, Inc ., a leading ... and services, announced that a poster related to ... external beam radiotherapy (EBRT) is being presented at ... (MAAUA) Annual Meeting in Baltimore, Maryland September 18-21, ... and External Beam Radiation as Treatments for Localized ...
(Date:9/18/2014)... 2014 A novel robotic system that ... is currently being tested as part of a biomedical ... Boston with the aim of determining if the robot, ... cancer biopsies faster, more accurate, less costly, and less ... the potential to deliver prostate cancer therapies with greater ...
(Date:9/18/2014)... Station, Texas (PRWEB) September 18, 2014 ... System Chancellor John Sharp, Texas A&M Health Science ... the U.S. Department of Health and Human Services ... today dedicated a national pandemic influenza vaccine manufacturing ... serve as an anchor for the Texas A&M ...
(Date:9/18/2014)... -- Research and Markets has announced ... Report 2014" report to their offering. ... is a professional and in-depth study on the ... The report provides a basic overview of ... chain structure. The N-acetylcysteine market analysis is provided ...
Breaking Biology Technology:HealthTronics Announces Data Comparing Cryotherapy Versus Radiation for Treating Prostate Cancer Poster Presented at the American Urological Association Regional Meeting 2Worcester Polytechnic Institute Participates in Clinical Trial for MRI-Compatible Robot Designed to Improve Accuracy of Prostate Cancer Biopsies 2Worcester Polytechnic Institute Participates in Clinical Trial for MRI-Compatible Robot Designed to Improve Accuracy of Prostate Cancer Biopsies 3Worcester Polytechnic Institute Participates in Clinical Trial for MRI-Compatible Robot Designed to Improve Accuracy of Prostate Cancer Biopsies 4Worcester Polytechnic Institute Participates in Clinical Trial for MRI-Compatible Robot Designed to Improve Accuracy of Prostate Cancer Biopsies 5Worcester Polytechnic Institute Participates in Clinical Trial for MRI-Compatible Robot Designed to Improve Accuracy of Prostate Cancer Biopsies 6Texas A&M Dedicates National Pandemic Influenza Vaccine Manufacturing Facility, on Track for 2016 Start-Up Phase 2Texas A&M Dedicates National Pandemic Influenza Vaccine Manufacturing Facility, on Track for 2016 Start-Up Phase 3Texas A&M Dedicates National Pandemic Influenza Vaccine Manufacturing Facility, on Track for 2016 Start-Up Phase 4Global N-acetylcysteine Industry Report 2014 2
... Pharmaceuticals, Inc. (Nasdaq: AMLN ) today announced ... for the Company,s Annual Meeting of Stockholders held May ... votes. The preliminary tabulation indicates that shareholders voted ... Amylin,s Board of Directors - Adrian Adams, Steven R. ...
... kick-off event at Walsh College ... job seekers networking event , , TROY, Mich., June 2 ... Community Services have teamed up to offer a new series of Walsh ... new round of workshops features more days, more topics and expanded career content. ...
... BASKING RIDGE, N.J., June 2 Regado Biosciences, Inc., ... therapeutic aptamers with active control agents, today announced the ... MAB is comprised of leaders in the fields of ... highly regarded leaders will advise the Company on its ...
Cached Biology Technology:Amylin Announces Preliminary Tabulation of Annual Meeting Results 2Amylin Announces Preliminary Tabulation of Annual Meeting Results 3Walsh College and Ford Motor Company Fund and Community Services Team Up To Offer New Series of 'Take Charge' Workshops for the Unemployed 2Walsh College and Ford Motor Company Fund and Community Services Team Up To Offer New Series of 'Take Charge' Workshops for the Unemployed 3Walsh College and Ford Motor Company Fund and Community Services Team Up To Offer New Series of 'Take Charge' Workshops for the Unemployed 4Regado Biosciences Establishes Medical Advisory Board 2Regado Biosciences Establishes Medical Advisory Board 3
... The EC570-90 is a compact, lightweight, high ... 500 volts or 2500 milliamps. It is an ... RNA submarine gels. It is also ideal for ... time can be set to automatically end a ...
Rat Hepatocytes (RH) (>3,000,000 cells)...
QCPN...
Rat Aortic Smooth Muscle Cells (RAOSMC) (>500,000 cells)...
Biology Products: