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:3/26/2015)... TORONTO , March 26, 2015 ... premier family, social, recreation and athletic club, today announced ... designed to allow freedom of movement for members and ... "Following a comprehensive process, we selected FST,s IMID ... sophistication and convenience for our members and staff, in ...
(Date:3/23/2015)... , March 23, 2015 SoundView Technology Group issues ... (NASDAQ: NXTD ) Wocket smart wallet. SoundView was one of ... on their experience with the Wocket in multiple scenarios and ... Whole Foods and other retailers, making both debit and credit ... also says, "If the company meets their plans in ...
(Date:3/20/2015)... --Research and Markets ( http://www.researchandmarkets.com/research/rswjb4/hand_geometry ) has announced ... Business Report" report to their offering. This ... Thousands. The report provides separate comprehensive analytics for the US, ... Europe , Asia-Pacific , ... Annual estimates and forecasts are provided for the ...
Breaking Biology News(10 mins):Granite Club First Private Club in North America to Implement FST Biometrics Secure Access Solution, as Part of Multi-million Dollar Expansion 2Technology Research Note Update from SoundView; Real-World Usage and Feedback of Wocket Smart Wallet at CVS, Whole Foods and other Retailers 2Technology Research Note Update from SoundView; Real-World Usage and Feedback of Wocket Smart Wallet at CVS, Whole Foods and other Retailers 3Technology Research Note Update from SoundView; Real-World Usage and Feedback of Wocket Smart Wallet at CVS, Whole Foods and other Retailers 4Hand Geometry - Global Strategic Business Report 2015: An Essential Security Component for both Government & Enterprise Sector 2Hand Geometry - Global Strategic Business Report 2015: An Essential Security Component for both Government & Enterprise Sector 3Hand Geometry - Global Strategic Business Report 2015: An Essential Security Component for both Government & Enterprise Sector 4
... melodies accurately, according to a new study by the ... Kaiserslautern in Germany. Their analysis of human melody singing ... The work is published online in Springer,s journal ... be one of the most complex and demanding cognitive ...
... Down syndrome, more commonly known as "trisomy 21" is ... population: Alzheimer,s disease, leukemia, or cardiac deficiency. In a ... Faculty of Medicine of the University of Geneva (UNIGE), ... 21, determining the risk of congenital heart disease in ...
... in the southern Australian-New Zealand region has been identified ... Nature journal Scientific Reports , demonstrates that ... into the Southern Ocean by rising global temperatures associated ... of strong El Nios in recent decades, which should ...
Cached Biology News:Songbirds turn on and tune up 2Complex genetic architectures: Some common symptoms of trisomy 21 2Climate tug of war disrupting Australian atmospheric circulation patterns 2
(Date:5/4/2015)... Illinois (PRWEB) May 04, 2015 ... options for patients with arm and hand impairments ... exoskeleton at its Oakbrook Terrace network site. , ... the Armeo®Spring is a highly-regarded treatment option for ... acquiring the Armeo®Spring, Marianjoy becomes one of just ...
(Date:5/1/2015)... TORONTO , May 1, 2015 /CNW/ - Softchoice, a leading ... that it is the proud recipient of two Cisco® Partner ... Services Partner of the Year and Security Partner of the ... partner conference taking place this week in Montreal ... not one, but two Cisco partner awards at this year,s ...
(Date:5/1/2015)... SILVER SPRING, Md. and RESEARCH TRIANGLE ... Corporation (NASDAQ: UTHR ) announced today that Roger ... Therapeutics, will provide an overview and update on the company,s ... Care Conference in Boston, Massachusetts . ... 2015, at 3:30 PM Eastern Time, and can be accessed ...
(Date:4/30/2015)... - BioAmber Inc. (NYSE: BIOA ), an industrial ... commenced an underwritten public offering of its common stock.  ... 30-day option to purchase up to an additional 15 ... the public offering. The offering is subject to market ... whether or when the offering may be completed, or ...
Breaking Biology Technology:Marianjoy Acquires Armeo®Spring Arm and Hand Rehabilitation Exoskeleton at Oakbrook Terrace Facility 2Softchoice recognized with two Country Awards at Cisco Partner Summit 2015 2BioAmber Inc. Announces Public Offering Of Common Stock 2BioAmber Inc. Announces Public Offering Of Common Stock 3
... England, May 7 Cyprotex today,(7th May 2009) launches ... drug discovery services. The initial offering via Cloe(R) Gateway ... Cloe(R) PK, which,predicts whole body pharmacokinetics from simple in ... Commenting on the launch, Dr Anthony D. Baxter, Cyprotex,s ...
... 2009 at 10:00 a.m. EDT , EAST BRUNSWICK, N.J., May ... reported financial results for the three months ended March 31, 2009. ... net loss of $21.9 million, or $0.41 per basic and diluted ... loss of $17.6 million, or $0.33 per basic and diluted share ...
... PAULO, May 6 Former U.S. President Bill Clinton will,participate ... 2009, to be held,between June 1 and 3 in Sao ... Association (UNICA) and is one of the most,important gatherings focused ... President Clinton was the first Democratic president awarded a second ...
Cached Biology Technology:Cyprotex Launches Cloe(R) Gateway, its Secure web Portal for Access to Cyprotex Services Including an Enhanced Version of Cloe(R) PK. 2Savient Pharmaceuticals Reports First Quarter 2009 Financial Results 2Savient Pharmaceuticals Reports First Quarter 2009 Financial Results 3Savient Pharmaceuticals Reports First Quarter 2009 Financial Results 4Savient Pharmaceuticals Reports First Quarter 2009 Financial Results 5Savient Pharmaceuticals Reports First Quarter 2009 Financial Results 6Savient Pharmaceuticals Reports First Quarter 2009 Financial Results 7Savient Pharmaceuticals Reports First Quarter 2009 Financial Results 8Savient Pharmaceuticals Reports First Quarter 2009 Financial Results 9President Bill Clinton to Speak at the Ethanol Summit in Brazil 2
2,4,6, Trinitrophenyl hapten is conjugated to lipopolysaccharide (LPS)....
... System creates isogenic cell lines all ... the protein of interest. This homogeneous ... (click link below). In this experiment ... (CAT) was subcloned into pcDNA5/FRT and ...
Fast, sensitive quantitation of total MEK 1/2 concentration....
... Automatic High Sensitivity Laboratory Osmometer for 50 L samples. Operating head automatically rises at the end of ... ... ... ...
Biology Products: