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

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.

add to favorites email to friend print save as pdf

Related Stories

Recommended for you

Science of romantic relationships includes gene factor

19 hours ago

(Medical Xpress)—Adolescents worry about passing tests, winning games, lost phones, fractured bones—and whether or not they will ever really fall in love. Three Chinese researchers have focused on that ...

Stress reaction may be in your dad's DNA, study finds

Nov 21, 2014

Stress in this generation could mean resilience in the next, a new study suggests. Male mice subjected to unpredictable stressors produced offspring that showed more flexible coping strategies when under ...

More genetic clues found in a severe food allergy

Nov 21, 2014

Scientists have identified four new genes associated with the severe food allergy eosinophilic esophagitis (EoE). Because the genes appear to have roles in other allergic diseases and in inflammation, the ...

Brain-dwelling worm in UK man's head sequenced

Nov 20, 2014

For the first time, the genome of a rarely seen tapeworm has been sequenced. The genetic information of this invasive parasite, which lived for four years in a UK resident's brain, offers new opportunities ...

User 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.