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."

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

Related Stories

New clue found for Fragile X syndrome-epilepsy link

April 12, 2011

Individuals with fragile X syndrome, the most common inherited form of intellectual disability, often develop epilepsy, but so far the underlying causes are unknown. Researchers have now discovered a potential mechanism that ...

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

Blocking a gene reduces fat

July 29, 2015

By blocking the expression of a certain gene in patients, University of Montreal researchers have contributed to the demonstration of great decreases in the concentration of triglycerides in their blood, even in various severe ...

Study identifies 'major player' in skin cancer genes

July 27, 2015

A multidisciplinary team at Yale, led by Yale Cancer Center members, has defined a subgroup of genetic mutations that are present in a significant number of melanoma skin cancer cases. Their findings shed light on an important ...

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.