Researchers identify genetic cause of MMPSI, rare infant epileptic disorder

October 24, 2012
Credit: Shutterstock

A Yale-led 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. The study appears online in Nature Genetics.

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 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 , 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, 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."

Explore further: Evolution's gift may also be at the root of a form of autism

More information: www.nature.com/ng/journal/vaop/ncurrent/full/ng.2441.html

Related Stories

Evolution's gift may also be at the root of a form of autism

May 10, 2012

A recently evolved pattern of gene activity in the language and decision-making centers of the human brain is missing in a disorder associated with autism and learning disabilities, a new study by Yale University researchers ...

Recommended for you

Multifaceted genetic impact of training

September 23, 2016

Endurance training changes the activity of thousands of genes and give rise to a multitude of altered DNA-copies, RNA, researchers from Karolinska Institutet report. The study, which also nuances the concept of muscle memory, ...

Controlling cell-fate decisions

September 23, 2016

Rafal Ciosk and his group at the FMI have identified an important link between the Notch signaling pathway and PRC2-mediated gene silencing. They showed that a fine balance between epigenetic silencing and signaling is crucial ...

Unravelling the genetic mystery behind mitochondrial disease

September 15, 2016

Researchers from the Monash Biomedicine Discovery Institute in Melbourne have identified two new genes linked to a major cause of mitochondrial disease. Their research opens the way for better genetic diagnosis of the disease ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.