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

Recommended for you

Scientists find new genetic roots of schizophrenia

October 19, 2016

UCLA scientists have made a major advance in understanding the biology of schizophrenia. Using a recently developed technology for analyzing DNA, the scientists found dozens of genes and two major biological pathways that ...

Possible miscarriage gene found: study

October 19, 2016

Scientists said Wednesday they had linked mutations in a specific gene with an increased risk of recurrent miscarriages, offering hopes of better diagnosis and treatment for affected women.


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.