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Published: 25 October 2012

Genes linked to rare epilepsy

Researchers are mapping genes responsible for a rare form of epilepsy known as autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).

Dr Sarah Heron from the University of South Australia’s Sansom Research Institute and her team’s latest research to identify a new gene for this form of epilepsy is published in this month’s Nature Genetics

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

'ADNFLE usually develops in childhood and is characterised by clusters of seizures during sleep. It can have an association with cognitive deficits and or psychiatric co morbidity,' says Dr Heron. 

'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.'

The gene 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 genetic counselling and also for understanding more about the full spectrum of epilepsy disorders.