Research helps unlock gene secrets of autosomal dominant nocturnal frontal lobe epilepsy

October 22, 2012
Research helps unlock gene secrets of autosomal dominant nocturnal frontal lobe epilepsy

In a national research partnership, Dr Sarah Heron from the University of South Australia's Sansom Research Institute, epilepsy research group, has been working to map the genes responsible for a rare form of epilepsy - autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).

Dr Heron and her team's latest research to identify a new gene for this form of epilepsy has been published in this month.  

She says while ADNFLE affects a relatively rare group of people, the symptoms and impact of the condition can be devastating.

"ADNFLE usually develops in childhood and characterised by clusters of seizures during sleep," Dr Heron says.

 "It can have an association with cognitive deficits and or psychiatric comorbidity.

 "Our research has identified that mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy and associated intellectual and or psychiatric disability."

UniSA's epilepsy research group is led by Associate Professor Leanne Dibbens.  The gener-discovery research has been undertaken with support from the National Health and Medical Research Council of Australia and in collaboration with researchers at The University of Melbourne's Clinical College's Epilepsy Research Centre.

Dr Heron says the identification of the gene has important implications for and also for understanding more about the full spectrum of epilepsy disorders.

Explore further: A world first: The discovery of a common genetic cause of autism and epilepsy

Related Stories

A world first: The discovery of a common genetic cause of autism and epilepsy

April 8, 2011
Researchers from the CHUM Research Centre (CRCHUM) have identified a new gene that predisposes people to both autism and epilepsy.

Study finds bidirectional relationship between schizophrenia and epilepsy

September 19, 2011
Researchers from Taiwan have confirmed a bidirectional relation between schizophrenia and epilepsy. The study published today in Epilepsia, a journal of the International League Against Epilepsy (ILAE), reports that patients ...

Aging accelerates brain abnormalities in childhood onset epilepsy patients

April 2, 2012
New research confirms that childhood onset temporal lobe epilepsy has a significant impact on brain aging. Study findings published in Epilepsia, a peer-reviewed journal of the International League Against Epilepsy (ILAE), ...

Study points to potential for improvement in the care, quality of life of epilepsy patients

September 28, 2012
(Medical Xpress)—Routine screening for psychiatric, cognitive and social problems could enhance the quality of care and quality of life for children and adults with epilepsy, according to a study by UC Irvine neurologist ...

Recommended for you

Maternal diet may program child for disease risk, but better nutrition later can change that

October 20, 2017
Research has shown that a mother's diet during pregnancy, particularly one that is high-fat, may program her baby for future risk of certain diseases such as diabetes. A new study from nutrition researchers at the University ...

New gene editing approach for alpha-1 antitrypsin deficiency shows promise

October 20, 2017
A new study by scientists at UMass Medical School shows that using a technique called "nuclease-free" gene editing to correct cells with the mutation that causes a rare liver disease leads to repopulation of the diseased ...

Researchers find evidence of DNA damage in veterans with Gulf War illness

October 19, 2017
Researchers say they have found the "first direct biological evidence" of damage in veterans with Gulf War illness to DNA within cellular structures that produce energy in the body.

Researchers drill down into gene behind frontotemporal lobar degeneration

October 19, 2017
Seven years ago, Penn Medicine researchers showed that mutations in the TMEM106B gene significantly increased a person's risk of frontotemporal lobar degeneration (FTLD), the second most common cause of dementia in those ...

New clues to treat Alagille syndrome from zebrafish

October 18, 2017
A new study led by researchers at Sanford Burnham Prebys Medical Discovery Institute (SBP) identifies potential new therapeutic avenues for patients with Alagille syndrome. The discovery, published in Nature Communications, ...

Genetic variants associated with obsessive-compulsive disorder identified

October 18, 2017
(Medical Xpress)—An international team of researchers has found evidence of four genes that can be linked to obsessive-compulsive disorder (OCD). In their paper published in the journal Nature Communications, the group ...

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.