Corporate Banner
Satellite Banner
Genomics
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Yale Researchers Identify Genetic Cause of Rare Infant Epileptic Disorder

Published: Wednesday, October 24, 2012
Last Updated: Wednesday, October 24, 2012
Bookmark and Share
A team of researchers has identified the gene that, when mutated, causes a devastating early-onset disorder in babies known as “malignant migrating partial seizures of infants,” or MMPSI.

MMPSI is a rare, severe brain disorder that appears in the first six months of life. It is characterized by treatment-resistant epileptic seizures and developmental delay. Further, the electrical activity appears to “migrate” through various regions of the brain, which gives the disorder its name. Although the recurrent seizures and electrical discharges in the brain abate with age, the patient’s intellectual and motor development is arrested in infancy.

In collaboration with a group at the Hopital Necker-Enfants Malades in Paris, France, the Yale team found that the disease-causing gene, which was identified by selective DNA exome sequencing in a dozen patients affected by MMPSI, results in the overactivity of a protein that normally controls the excitability of neurons. The Yale team also discovered that the affected protein interacts with another protein that, when defective, is known to produce Fragile X syndrome, the leading inherited cause of autism and intellectual disability.

“For the first time, we have a target for future therapeutic approaches to treating this devastating condition,” said co-first author Matthew Fleming, postdoctoral researcher at Yale School of Medicine.
All of the data to characterize the aberrant protein in this study were generated in lab of Leonard Kaczmarek, professor of pharmacology and of cellular and molecular physiology at Yale School of Medicine.

Kaczmarek explains, “We believe this to be the first epilepsy-associated gene to be identified by exome sequencing in a handful of affected patients,” says Kaczmarek. “Moreover, it provides a very important glimpse into why some epilepsies are so devastating for brain function while others seem to have no effect on intellectual development.”

Corresponding author Rima Nabbout, co-first author Giulia Barcia, and authors Aline Deligniere, Isabelle Desguerre and Olivier Dulac are with the Assistance Publique-Hopitaux de Paris. Other authors are Vali Gazula, Maile Brown, Jack Kronengold of Yale; Haijun Chen of the State University of New York, Albany; Avinash Abhyankar of The Rockefeller University; Roberta Cilio of Children’s Hospital, Rome; Patrick Nitschke, Anna Kaminska, Maeva Langouet, Arnold Munnich, Laurence Colleaux and Nathalie Boddaert of Hopital Necker-Enfants Malades, Paris.

The study was supported by grants from the Centre National de la Recherche Scientifique, the French National Research Agency, the U.S. National Institutes of Health, the FRAXA Foundation, the St. Giles Foundation, and the Rockefeller University.


Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,400+ scientific posters on ePosters
  • More than 3,700+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Gene Testing Now Allows Precision Medicine for Thoracic Aneurysms
Researchers at the Aortic Institute at Yale have tested the genomes of more than 100 patients with thoracic aortic aneurysms, a potentially lethal condition, and provided genetically personalized care.
Monday, July 20, 2015
After a Sip of Milkshake, Genes and Brain Activity Predict Weight Gain
The new study published in The Journal Neuroscience.
Thursday, May 21, 2015
Gene Editing Corrects Mutation In Cystic Fibrosis
Yale researchers successfully corrected the most common mutation in the gene that causes cystic fibrosis, a lethal genetic disorder.
Monday, April 27, 2015
Single-Cell, 42-plexed Protein Analysis Achieved with a New Microchip Technology
A novel microdevice capable of detecting 42 unique immune effector proteins has been developed.
Tuesday, February 17, 2015
New Class of Synthetic Molecules Mimics Antibodies
A Yale University lab has crafted the first synthetic molecules that have both the targeting and response functions of antibodies.
Wednesday, December 24, 2014
Immune Cells get Cancer-Fighting Boost From Nanomaterials
Yale researchers used bundled carbon nanotubes to incubate cytotoxic T cells.
Monday, August 18, 2014
Gene that Causes Obesity-Related Metabolic Syndrome Identified
Yale-led research has identified a genetic mutation responsible for the cluster of cardiovascular risk factors that comprise the obesity-related “metabolic syndrome.”
Friday, May 16, 2014
Tsetse Fly Genome Sequenced
Research opens the door to scientific breakthroughs that could reduce or end African sleeping sickness in sub-Saharan Africa.
Friday, April 25, 2014
Deleting Single Gene Reduces Fat in Mice
By deleting a single gene, researchers at Yale University were able to dramatically reduce fat mass in mice while expanding their lifespan by 20%.
Tuesday, March 25, 2014
Genetic Mutation Causes Lupus in Mice
Discovery could open the way for development of therapies that target the mutation.
Tuesday, January 07, 2014
Yale’s Lifton Receives $3 Million Science Prize
Richard Lifton has received a $3 million Breakthrough Prize in Life Sciences, created by top Silicon Valley entrepreneurs.
Monday, December 16, 2013
Follow the Genes: Yale Team Finds Clues to Origin of Autism
A team of researchers has pinpointed which cell types and regions of the developing human brain are affected by gene mutations linked to autism.
Wednesday, November 27, 2013
Yale and Harvard Researchers Rewrite an Entire Genome
Scientists recoded the entire genome of an organism and improved a bacterium’s ability to resist viruses.
Friday, October 18, 2013
Awakening Genes that Suppress Tumors
When genes that normally suppress tumor growth are themselves suppressed, cancer cells can grow and proliferate uncontrollably.
Tuesday, October 15, 2013
New Study Changes View about the Genetics of Leukemia Risk
A gene that helps keep blood free of cancer is controlled by tiny pieces of RNA, a finding that may lead to better ways to diagnose blood cancers.
Tuesday, October 15, 2013
Scientific News
Long Telomeres Associated with Increased Lung Cancer Risk
Genetic predisposition for long telomeres predicts increased lung adenocarcinoma risk.
Expanding the Brain
A team of researchers has identified more than 40 new “imprinted” genes, in which either the maternal or paternal copy of a gene is expressed while the other is silenced.
Identifying a Key Growth Factor in Cell Proliferation
Researchers discover that aspartate is a limiter of cell proliferation.
Study Uncovers Target for Preventing Huntington’s Disease
Scientists from Cardiff University believe that a treatment to prevent or delay the symptoms of Huntington’s disease could now be much closer, following a major breakthrough.
The Genetic Roots of Adolescent Scoliosis
Scientists at the RIKEN Center for Integrative Medical Sciences in collaboration with Keio University in Japan have discovered a gene that is linked to susceptibility of Scoliosis.
A Gene-Sequence Swap Using CRISPR to Cure Haemophilia
For the first time chromosomal defects responsible for hemophilia have been corrected in patient-specific iPSCs using CRISPR-Cas9 nucleases
New Tool Uses 'Drug Spillover' to Match Cancer Patients with Treatments
Researchers have developed a new tool that improves the ability to match drugs to disease: the Kinase Addiction Ranker (KAR) predicts what genetics are truly driving the cancer in any population of cells and chooses the best "kinase inhibitor" to silence these dangerous genetic causes of disease.
Understanding the Molecular Origin of Epigenetic Markers
Researchers at IRB Barcelona discover the molecular mechanism that determines how epigenetic markers influence gene expression.
New Tech Enables Epigenomic Analysis with a Mere 100 Cells
A new technology that will dramatically enhance investigations of epigenomes, the machinery that turns on and off genes and a very prominent field of study in diseases such as stem cell differentiation, inflammation and cancer has been developed by researchers at Virginia Tech.
Access Denied: Leukemia Thwarted by Cutting Off Link to Environmental Support
A new study reveals a protein’s critical – and previously unknown -- role in the development and progression of acute myeloid leukemia (AML), a fast-growing and extremely difficult-to-treat blood cancer.
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,400+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,700+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!