Navigation Links
Mutant gene causes epilepsy, intellectual disability in women
Date:5/12/2008

ion in the brain, and could also hold the key to better understanding related issues, such as autism and obsessive disorders.

With 100 related proteins involved in this gene family, this study could lead to many new areas of research, with the need to understand the role and function of each protein, she says.

Clinically, the disorder EFMR was first described more than 10 years ago, but the cause of EFMR has been unknown until now. Why females rather males are affected as is usual for X chromosome associated disorders makes this a unique disorder among the epilepsies and mental retardations.

For this study, seven families were studied in Australia, the United States, Israel and Ireland. The genetic mutation was discovered in each family.

Crucial to this research was access to state-of-the-art technological support including the sequencing of 737 genes on the X chromosome, which was conducted by collaborators at the Wellcome Trust Sanger Institute in the UK.


'/>"/>

Contact: Dr. Leanne Dibbens
leanne.dibbens@cywhs.sa.gov.au
61-881-616-842
University of Adelaide
Source:Eurekalert

Page: 1 2

Related medicine news :

1. What is the more suitable for early detection of low abundant lamivudine-resistant mutants?
2. FSU researchers mutant proteins could lead to new treatment for heart disease
3. Constipations Many Causes and Cures
4. How adhesive protein causes malaria
5. Eating AGE-Rich Foods Causes Dysfunction Linked to Heart Disease
6. Patient Safety Authority Releases Advisory Focusing on Common Causes of Medication Errors
7. New research shows how H5N1 virus causes disease
8. New discovery may improve treatment of one of the worlds leading causes of blindness
9. Research shows how genetic mutation causes epilepsy in infants
10. U-M scientists find new causes for neurodegeneration
11. IOM Workshop Calls for Greater Research Focus on Environmental Causes of Autism
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/29/2014)... (PRWEB) August 29, 2014 When subjected ... has been found to be one of the most ... , DISC, MBTI, the Hartman Personality Profile, and the ... of testing personality. Each of these testing tools uses ... personality type. Once personality type has been identified, the ...
(Date:8/29/2014)... How can you make your ... top notch services. Dr. Michael Fiorillo knows this ... with a double board certified surgeon and vein ... websites! , Dr. Fiorillo’s services include a wide ... Some of these are breast augmentation, breast lift, ...
(Date:8/29/2014)... 29, 2014 According to Macmillan Cancer ... (NCIN) conference held in Birmingham, England last June, “More ... their disease recur”. This only goes to show how ... are struggling to fight its grueling series of treatments. ... woman’s journey through breast cancer is featured in the ...
(Date:8/29/2014)... Raton, Florida (PRWEB) August 29, 2014 ... which surgeons, like Dr. Scott Katzman of Orthopedic ... instruments to view and perform repairs. Problems with ... the vertebrae cause a number of treatment needs that ... type spine surgery involves an advantageously small incision and ...
(Date:8/29/2014)... Today, Progene reaches another milestone as the only ... healthcare network , but also with enrolled providers nationwide ... a few weeks ago. Today, we’re now recommended by ... , The network adds an unprecedented level of service ... before and after they make a purchase -- with the ...
Breaking Medicine News(10 mins):Health News:DISC Personality Tests Demonstrate High Rates of “Test-Retest Reliability” 2Health News:DISC Personality Tests Demonstrate High Rates of “Test-Retest Reliability” 3Health News:Michael Fiorillo’s Advanced Plastic Surgery Center Expansion – New Vein Specialist and Websites Launch 2Health News:Michael Fiorillo’s Advanced Plastic Surgery Center Expansion – New Vein Specialist and Websites Launch 3Health News:Lisa Grimaldi Shares Her Fashionable Journey through Breast Cancer 2Health News:Advancements in Spine Surgery Offered by this Modern Florida Surgery Group are Cutting Out Historically Demanding Recovery Times 2Health News:Progene Is Doctor Recommended Nationwide 2Health News:Progene Is Doctor Recommended Nationwide 3
... injured after a strong earthquake with a magnitude of ... Sunday. ,The quake shook the old downtown area ... at 5:34 a.m., with the epicentre at 23 degrees north ... ,The quake also forced the evacuation of 120,000 ...
... patients with culture-positive tuberculosis (TB), relapse rates were ... patients compared to HIV-uninfected patients following a rifamycin-based ... HIV-infected patients who received intermittent or standard 6-month ... longer treatment. ,The results appear in ...
... has been regularly urging the developing world to look for ... their public health services. But many nations in the African ... challenge before them. ,Like elsewhere in the third ... capital city of Lusaka hundreds of persons walking aimlessly along ...
... to assess the reproductive health needs of women displaced ... developed by the Centers for Disease Control and ... world's refugees and internally displaced people are women and ... Conflict- Affected Women, is the response of the CDC's ...
... plan of the US should complement rather than substitute the ... (UNFCCC), China's top economic planner Ma Kai said Monday. ... differentiated responsibilities in the UNFCCC and some details in the ... Ma said at a press conference. ,He said ...
... DuRant, Ph.D., and his colleagues' at Brenner Children's Hospital, ... have carried out a research study on the safety ... in the June issue of Pediatrics. ,'Over ... their firearms safely in their residence,' DuRant said. 'This ...
Cached Medicine News:Health News:Treatment Outcomes of Patients With HIV and Tuberculosis 2Health News:Zambia Trying Hard to Tackle Crisis in Mental Health Care 2Health News:Toolkit to Assess Reproductive Health Needs of Displaced Women 2Health News:Storage of Firearms Unsafe in Most Families 2
(Date:8/28/2014)... , Aug. 28, 2014  In anticipation of the upcoming ... being made available for the first time. Industry Overview: ... offers a snapshot of San Diego,s ... Highlighting everything from the latest employment statistics to current venture ... San Diego such a vital part of ...
(Date:8/28/2014)... , Aug. 28, 2014  A candidate Ebola vaccine could be ... and Mali as early as ... vaccines aimed at preventing the disease that has killed more than ... . Human trials of this candidate vaccine, being ... are to be accelerated with funding from an international consortium in ...
(Date:8/28/2014)... , August 28, 2014 According ... Research "Radiofrequency Identification (RFID) Market (Tags, Readers, Middleware, Printers ... Trends and Forecast, 2014 - 2020" the global radiofrequency ... in 2013 and is expected to grow at a ... an estimated value of USD 5.3 billion in 2020. ...
Breaking Medicine Technology:New Infographic Published - Overview of Medtech & Life Sciences Industry in San Diego 2Ebola vaccine trials fast-tracked by international consortium 2Ebola vaccine trials fast-tracked by international consortium 3Ebola vaccine trials fast-tracked by international consortium 4Ebola vaccine trials fast-tracked by international consortium 5Ebola vaccine trials fast-tracked by international consortium 6Ebola vaccine trials fast-tracked by international consortium 7Radiofrequency Identification (RFID) Market in Healthcare is Expected to Reach USD 5.3 Billion Globally by 2020: Transparency Market Research 2Radiofrequency Identification (RFID) Market in Healthcare is Expected to Reach USD 5.3 Billion Globally by 2020: Transparency Market Research 3Radiofrequency Identification (RFID) Market in Healthcare is Expected to Reach USD 5.3 Billion Globally by 2020: Transparency Market Research 4Radiofrequency Identification (RFID) Market in Healthcare is Expected to Reach USD 5.3 Billion Globally by 2020: Transparency Market Research 5
... Hands Foundation announced today the donation of $75,000 to ... in the United States and Latin America. The money was ... Blue Test, supported by Roche Diabetes Care. The ... World Diabetes Day on Nov. 14. The campaign reinforces the ...
... Generex Biotechnology Corporation (OTCBB: GNBT.OB) ( www.generex.com ) ... ( www.antigenexpress.com ), will present new Phase 2 clinical ... HER-2/neu Peptide Vaccine (AE37) in HER-2 expressing breast cancer ... Cancer Symposium (SABCS) in San Antonio, Texas on December ...
Cached Medicine Technology:Big Blue Test 2011 Provides Life-Saving Insulin and Supplies to More Than 8,000 People in Need 2Big Blue Test 2011 Provides Life-Saving Insulin and Supplies to More Than 8,000 People in Need 3Big Blue Test 2011 Provides Life-Saving Insulin and Supplies to More Than 8,000 People in Need 4Generex Subsidiary Antigen Express to Present AE37 Cancer Vaccine Phase 2 Clinical Data at 34th Annual CTRC-AACR San Antonio Breast Cancer Symposium 2Generex Subsidiary Antigen Express to Present AE37 Cancer Vaccine Phase 2 Clinical Data at 34th Annual CTRC-AACR San Antonio Breast Cancer Symposium 3Generex Subsidiary Antigen Express to Present AE37 Cancer Vaccine Phase 2 Clinical Data at 34th Annual CTRC-AACR San Antonio Breast Cancer Symposium 4Generex Subsidiary Antigen Express to Present AE37 Cancer Vaccine Phase 2 Clinical Data at 34th Annual CTRC-AACR San Antonio Breast Cancer Symposium 5
Cholesterol FS. For determination of cholesterol in serum or plasma. Available with Calibrator: Trucal U and Controls: Trulab N, Trulab P Trulab L....
For the quantitative determination of total cholesterol in serum....
Intended for the quantitative determination of total cholesterol in serum. Reaction: Endpoint. Reaction complete within five minutes. Wavelength: 500 nm. Linearity: 700 mg/dL (18.1 mmol/L). Single st...
... determination of Cholesterol in serum. ... 520 nm. Linearity: 500 mg/dl. ... simple 1:25 dilution and is ... 2-8 C. Liquid kit stability: ...
Medicine Products: