New gene discovery unlocks mystery to epilepsy in infants
(Medical Xpress) -- A team of Australian researchers has come a step closer to unlocking a mystery that causes epileptic seizures in babies.
Benign familial infantile epilepsy (BFIE) has been recognised for some time as infantile seizures, without fever, that run in families but the cause has so far eluded researchers. However clinical researchers at the University of Melbourne and Florey Neurosciences Institute and molecular geneticists at the University of South Australia have discovered a gene.
BFIE is a disorder that occurs in previously healthy infants who are developing normally. Seizures commence when a baby is about six months old and stop by the age of two years. BFIE is a rare form of epilepsy with the Australian researchers having studied about 40 families from around the world. Some of the children with this gene abnormality develop an unusual movement disorder later in childhood or adolescence called Paroxysmal Kinesigenic Choreoathetosis (PKC).
This movement disorder causes sudden, brief stiffening or twisting of their muscles as the person starts to move, for instance, people with this condition often have difficulty crossing the road when the traffic lights change to green. While this condition can be easily controlled by medication, it impacts on quality of life and may prevent people from participating in some activities.
Families with this condition have now been found to carry a variation in a gene called PRRT2, which may cause the protein the gene encodes to form incorrectly. The function of this gene is not yet known nor is it understood how the changes in this gene cause an infant to have seizures. This gene discovery provides valuable opportunities for learning more about brain function and what causes seizures.
Professor Ingrid Scheffer, Chair of Paediatric Neurology Research said the finding would help families understand why their baby has seizures and will provide reassurance that the baby will grow out of the seizures and not have long term problems. It will also help with early diagnosis and appropriate treatment of the movement disorder.
The research was published on Friday, 13 January 2012 in the American Journal of Human Genetics.
More information: PRRT2 mutations cause Benign Familial Infantile Epilepsy (BFIE) and Infantile Convulsions with Choreoathetosis (ICCA) syndrome, American Journal of Human Genetics.
Abstract
Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder of infancy with autosomal dominant inheritance. We have identified heterozygous mutations in PRRT2, which encodes Proline Rich Transmembrane protein 2, in fourteen of seventeen families (82%) with BFIE, indicating that PRRT2 mutations are the most frequent cause of this disorder. We also report PRRT2 mutations in five of six (83%) families with Infantile Convulsions and Choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur. These findings show that mutations in PRRT2 causes both epilepsy and a movement disorder. Furthermore, PRRT2 mutations elicit pleiotropy both in terms of age of expression (infantile versus later childhood) and in anatomical substrate (cortex versus basal ganglia).
Journal reference:
American Journal of Human Genetics
Provided by
University of Melbourne
-
Researchers discover cause of rare disease
Dec 16, 2011 |
not rated yet |
0
-
Research shows how genetic mutation causes epilepsy in infants
Oct 03, 2007 |
not rated yet |
0
-
Research shows how genetic mutation causes epilepsy in infants
Sep 24, 2007 |
not rated yet |
0
-
First Gene Discovered for Most Common Form of Epilepsy
Jan 28, 2009 |
not rated yet |
0
-
Findings in epilepsy gene in animals may guide treatment directions for infants
Jun 01, 2009 |
not rated yet |
0
-
Motion perception revisited: High Phi effect challenges established motion perception assumptions
Apr 23, 2013 |
3 / 5 (2) |
2
-
Anything you can do I can do better: Neuromolecular foundations of the superiority illusion (Update)
Apr 02, 2013 |
4.5 / 5 (11) |
5
-
The visual system as economist: Neural resource allocation in visual adaptation
Mar 30, 2013 |
5 / 5 (2) |
9
-
Separate lives: Neuronal and organismal lifespans decoupled
Mar 27, 2013 |
4.9 / 5 (8) |
0
-
Sizing things up: The evolutionary neurobiology of scale invariance
Feb 28, 2013 |
4.8 / 5 (10) |
14
-
Classical and Quantum Mechanics via Lie algebras
Apr 15, 2011
- More from Physics Forums - Independent Research
More news stories
Researchers identify first drug targets in childhood genetic tumor disorder
Two mutations central to the development of infantile myofibromatosis (IM)—a disorder characterized by multiple tumors involving the skin, bone, and soft tissue—may provide new therapeutic targets, according to researchers ...
Genetics
May 24, 2013 |
3 / 5 (2) |
0
|
Patenting the human genome
Can human genes be patented? That was the question posed by Alan J. Snyder, vice president and associate provost for research and graduate studies at Lehigh, and Lee Kaplan, scientific director of cellular and molecular genetics ...
Genetics
May 24, 2013 |
4 / 5 (1) |
0
Researchers complete largest genetic sequencing study of human disease
Researchers from Queen Mary, University of London have led the largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases.
Genetics
May 22, 2013 |
4.5 / 5 (4) |
0
|
Researchers develop model for better testing, targeting of malignant peripheral nerve sheath tumors
University of Minnesota Medical School researchers from the Masonic Cancer Center, University of Minnesota, in partnership with the University's Brain Tumor Program, have developed a new mouse model of malignant peripheral ...
Genetics
May 20, 2013 |
5 / 5 (1) |
0
|
Researchers identify new circadian clock component
Northwestern University scientists have shown a gene involved in neurodegenerative disease also plays a critical role in the proper function of the circadian clock.
Genetics
May 16, 2013 |
3 / 5 (1) |
1
|
Seniors more likely to crash when driving with pet, study finds
(HealthDay)—Animals make great companions for senior citizens, but elderly people who always drive with a pet in the car are far more likely to crash than those who never drive with a pet, researchers have ...
First drug to improve heart failure mortality in over a decade
Coenzyme Q10 decreases all cause mortality by half, according to the results of a multicentre randomised double blind trial presented today at Heart Failure 2013 congress. It is the first drug to improve heart failure mortality ...
Heart failure accelerates male 'menopause'
Heart failure accelerates the aging process and brings on early andropausal syndrome (AS), according to research presented today at the Heart Failure Congress 2013. AS, also referred to as male 'menopause', was four times ...
Death highest in heart failure patients admitted in January, on Friday, and overnight
Mortality and length of stay are highest in heart failure patients admitted in January, on Friday, and overnight, according to research presented today at the Heart Failure Congress 2013. The analysis of nearly 1 million ...
Feds fight morning-after pill age ruling in NY
(AP)—Department of Justice lawyers have again asked a federal appeals court in New York to delay lifting age restrictions and prescription requirements on an emergency contraceptive popularly known as the morning-after ...
New immune system discovered
(Medical Xpress)—A research team, led by Jeremy Barr, a biology post-doctoral fellow, unveils a new immune system that protects humans and animals from infection.