Researcher Dr Lynette Sadleir from the University of Otago, Wellington, and her fellow co-authors have just published a paper in Nature Genetics, which has, for what's believed to be the first time, identified the cause of a rare type of epilepsy called epilepsy-aphasia.
The researchers sequenced the genes of 519 patients with severe seizure disorders, of which 44 patients had epilepsy-aphasia. Epilepsy-aphasia disorders are characterised by seizures and speech abnormalities.
Their paper, titled 'GRIN2A mutations cause epilepsy-aphasia spectrum disorders' (PDF 547kb), reports that of the 44 patients with epilepsy-aphasia, 9 per cent of those and their affected family members had mutations in the GRIN2A gene.
Dr Sadleir and her co-authors say the results strongly suggest that GRIN2A diagnostic testing is warranted in individuals with epilepsy-aphasia spectrum disorders and will enhance prognostic and genetic counselling for families. Clinical testing for this gene could, for example, be done for individuals with epilepsy-aphasia disorders who are wondering if they will pass on epilepsy to a child.
Dr Sadleir's work on this study is part of her HRC-funded project 'Defining the genetic determinants for epilepsy'.
Read a copy of the Nature Genetics paper (PDF 547kb).