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<p class="MsoBodyText">A 20 year old mystery was solved this week with the discovery that an epilepsy that affects infants is caused by the change of a single letter in one gene. Seizures in infancy are not rare, but this familial epilepsy occurs in probably
 60 families across Australia. It can also cause a movement disorder later in life.
<o:p></o:p></p>
<p class="MsoBodyText">The discovery was made by teams from the University of South Australia led by Associate Professor Leanne Dibbens and the Florey Institutes/University of Melbourne led by Professor Ingrid Scheffer. She is the 2012 Asia-Pacific L’Oréal-UNESCO
<i>For Women in Science</i> Laureate and will receive her award in Paris in March.
<o:p></o:p></p>
<p class="MsoBodyText">Prof Scheffer first started looking at benign familial infantile epilepsy some twenty years ago. “I have now met many families where several members had seizures beginning at around 6 months and the inheritance pattern looked like it
 was due to a single gene. Sometimes the baby’s parents had a movement disorder that often had not been diagnosed. ” she says.
<o:p></o:p></p>
<p class="MsoBodyText">“Fortunately, while this form of epilepsy can be terrifying for both infant and parents it is self-limiting. Children grow out of it and it doesn’t affect their intelligence. However it can reappear in later childhood or adolescence as
 a movement disorder. When you try to move a limb, it has a ‘mind of its own’ and moves in an odd direction. For one of my patients this often happens when the light changes at a pedestrian crossing and he goes to cross the road.”
<o:p></o:p></p>
<p class="MsoBodyText">“Another of my patients is a dancer. Just before she starts to dance she has learnt to prepare her body by making a first movement then waiting for a moment for the abnormal movement and sensation to pass.”<o:p></o:p></p>
<p class="MsoBodyText">Prof Scheffer and colleagues have been keen to identify the cause of the condition.
<o:p></o:p></p>
<p class="MsoBodyText">15 years ago the mutation was pinned down to chromosome 16 but neither they, nor many other researchers worldwide could identify the gene until last year.
<o:p></o:p></p>
<p class="MsoBodyText">A Chinese team looking at a movement disorder found that it was due to a mutation which adds just one more code (C) to a twelve code sequence on chromosome 16 affecting a gene called PRRT2. Their publication (Chen et al, Nature Genetics
 2011) gave Scheffer and her colleagues the clue they needed.<o:p></o:p></p>
<p class="MsoBodyText">“We went straight to the families we know with the condition,” she says. “We found a mutation in the PRRT2 gene in 19 of the 23 families, and 15 had the exact same mutation with the extra C despite being of many different nationalities.
 This suggests it is a mutation ‘hotspot’.” <o:p></o:p></p>
<p class="MsoBodyText">“Now we’ve identified the mutation we can screen infants and predict the risk of seizures. We know that this gene makes a protein called
<i>proline rich transmembrane protein 2.</i> That means we can hone in on what’s happening biochemically and start to develop targeted treatments for the condition.” 
<o:p></o:p></p>
<p class="MsoBodyText">The research was published on Friday, 13 January 2012 in the American Journal of Human Genetics.
<o:p></o:p></p>
<p class="MsoBodyText">Ingrid is one of five L’Oréal-UNESCO For Women in Science Laureate for 2012. Each will receive US$100,000 in recognition of her contribution to the advancement of science at the Awards Ceremony on 22 March 2012 at the UNESCO Headquarters
 in Paris.<o:p></o:p></p>
<p class="MsoBodyText">For L’Oréal Australia, Niall Byrne, <a href="mailto:niall@scienceinpublic.com.au">
<span style="color:windowtext;text-decoration:none">niall@scienceinpublic.com.au</span></a>, 0417 131 977<o:p></o:p></p>
<p class="MsoBodyText">For the University of South Australia: <o:p></o:p></p>
<p class="MsoListBullet" style="mso-list:l0 level1 lfo1"><![if !supportLists]><span style="font-family:Wingdings"><span style="mso-list:Ignore">§<span style="font:7.0pt "Times New Roman""> 
</span></span></span><![endif]>Sarah Heron (first author), 08 8302 2737, <a href="file:///C:\Users\Niall\AppData\Local\Microsoft\Windows\Temporary%20Internet%20Files\Content.Outlook\INSAVF30\Sarah.Heron@UniSA.edu.au">
<span style="color:windowtext;text-decoration:none">Sarah.Heron@UniSA.edu.au</span></a>;
<o:p></o:p></p>
<p class="MsoListBullet" style="mso-list:l0 level1 lfo1"><![if !supportLists]><span style="font-family:Wingdings"><span style="mso-list:Ignore">§<span style="font:7.0pt "Times New Roman""> 
</span></span></span><![endif]>Leanne Dibbens (project leader), 08 8302 1124, <a href="file:///C:\Users\Niall\AppData\Local\Microsoft\Windows\Temporary%20Internet%20Files\Content.Outlook\INSAVF30\Leanne.Dibbens@UniSA.edu.au">
<span style="color:windowtext;text-decoration:none">Leanne.Dibbens@UniSA.edu.au</span></a>;
<o:p></o:p></p>
<p class="MsoListBullet" style="mso-list:l0 level1 lfo1"><![if !supportLists]><span style="font-family:Wingdings"><span style="mso-list:Ignore">§<span style="font:7.0pt "Times New Roman""> 
</span></span></span><![endif]>Kelly Stone, UniSA media 08 8302 0963, <a href="file:///C:\Users\Niall\AppData\Local\Microsoft\Windows\Temporary%20Internet%20Files\Content.Outlook\INSAVF30\Kelly.Stone@unisa.edu.au">
<span style="color:windowtext;text-decoration:none">Kelly.Stone@unisa.edu.au</span></a>.<o:p></o:p></p>
<p class="MsoBodyText">For the Florey Institutes/University of Melbourne: <o:p></o:p></p>
<p class="MsoListBullet" style="mso-list:l0 level1 lfo1"><![if !supportLists]><span style="font-family:Wingdings"><span style="mso-list:Ignore">§<span style="font:7.0pt "Times New Roman""> 
</span></span></span><![endif]>Prof Ingrid Scheffer (project leader), 03 9035 7344,
<a href="mailto:scheffer@unimelb.edu.au"><span style="color:windowtext;text-decoration:none">scheffer@unimelb.edu.au</span></a><o:p></o:p></p>
<p class="MsoListBullet" style="mso-list:l0 level1 lfo1"><![if !supportLists]><span style="font-family:Wingdings"><span style="mso-list:Ignore">§<span style="font:7.0pt "Times New Roman""> 
</span></span></span><![endif]>Amanda Place, Florey PR, 0411 204 526, <a href="mailto:aplace@unimelb.edu.au">
<span style="color:windowtext;text-decoration:none">aplace@unimelb.edu.au</span></a><o:p></o:p></p>
<p class="MsoListBullet" style="mso-list:l0 level1 lfo1"><![if !supportLists]><span style="font-family:Wingdings"><span style="mso-list:Ignore">§<span style="font:7.0pt "Times New Roman""> 
</span></span></span><![endif]>Annie Rahilly, University of Melbourne media office, 0432 758 734, arahilly@unimelb.edu.au<o:p></o:p></p>
<h2>Links<o:p></o:p></h2>
<p class="MsoListBullet" style="margin-left:0cm;text-indent:0cm;mso-list:none">Full release:
<o:p></o:p></p>
<p class="MsoListBullet" style="margin-left:0cm;text-indent:0cm;mso-list:none">About Professor Ingrid Scheffer:<o:p></o:p></p>
<p class="MsoListBullet" style="mso-list:l0 level1 lfo1"><![if !supportLists]><span style="font-family:Wingdings"><span style="mso-list:Ignore">§<span style="font:7.0pt "Times New Roman""> 
</span></span></span><![endif]><a href="http://www.brain.org.au/epilepsyresearch/staff/profiles/i_scheffer.html"><span style="color:windowtext;text-decoration:none">http://www.brain.org.au/epilepsyresearch/staff/profiles/i_scheffer.html</span></a><o:p></o:p></p>
<p class="MsoListBullet" style="mso-list:l0 level1 lfo1"><![if !supportLists]><span style="font-family:Wingdings"><span style="mso-list:Ignore">§<span style="font:7.0pt "Times New Roman""> 
</span></span></span><![endif]><a href="http://www.scienceinpublic.com/loreal/media-releases/laureate2012#1"><span style="color:windowtext;text-decoration:none">http://www.scienceinpublic.com/loreal/media-releases/laureate2012#1</span></a><o:p></o:p></p>
<p class="MsoBodyText">About Associate Professor Leanne Dibbens <o:p></o:p></p>
<p class="MsoListBullet" style="mso-list:l0 level1 lfo1"><![if !supportLists]><span style="font-family:Wingdings"><span style="mso-list:Ignore">§<span style="font:7.0pt "Times New Roman""> 
</span></span></span><![endif]><a href="http://www.unisanet.unisa.edu.au/staff/homepage.asp?Name=Leanne.Dibbens"><span style="color:windowtext;text-decoration:none">http://www.unisanet.unisa.edu.au/staff/homepage.asp?Name=Leanne.Dibbens</span></a><o:p></o:p></p>
<p class="MsoNormal"><span style="font-family:"Cambria","serif""><o:p> </o:p></span></p>
<p class="MsoNormal"><span lang="EN-US" style="font-size:10.0pt;font-family:"Cambria","serif";color:#1F497D;mso-fareast-language:EN-AU">________<o:p></o:p></span></p>
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<p class="MsoNormal"><span lang="EN-US" style="font-size:10.0pt;font-family:"Cambria","serif";color:#1F497D;mso-fareast-language:EN-AU">Niall Byrne<o:p></o:p></span></p>
<p class="MsoNormal"><span lang="EN-US" style="font-size:10.0pt;font-family:"Cambria","serif";color:#1F497D;mso-fareast-language:EN-AU"><o:p> </o:p></span></p>
<p class="MsoNormal"><span lang="EN-US" style="font-size:10.0pt;font-family:"Cambria","serif";color:#1F497D;mso-fareast-language:EN-AU">Creative Director<o:p></o:p></span></p>
<p class="MsoNormal"><span lang="EN-US" style="font-size:10.0pt;font-family:"Cambria","serif";color:#1F497D;mso-fareast-language:EN-AU">Science in Public<br>
<br>
</span><span lang="EN-US" style="font-family:"Cambria","serif";color:#1F497D;mso-fareast-language:EN-AU"><o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:9.0pt;font-family:"Cambria","serif";color:#1F497D;mso-fareast-language:EN-AU">82 Hudsons Road, Spotswood  Vic  3015</span><span lang="EN-US" style="font-size:9.0pt;font-family:"Cambria","serif";color:#1F497D;mso-fareast-language:EN-AU"><o:p></o:p></span></p>
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<span style="font-size:9.0pt;font-family:"Cambria","serif";color:#1F497D;mso-fareast-language:EN-AU">PO Box 2076 Spotswood VIC 3015<o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:9.0pt;font-family:"Cambria","serif";color:#1F497D;mso-fareast-language:EN-AU">03 9398 1416,
</span><span lang="EN-US" style="font-size:9.0pt;font-family:"Cambria","serif";color:#1F497D;mso-fareast-language:EN-AU">0417 131 977<o:p></o:p></span></p>
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<p class="MsoNormal"><span style="font-size:9.0pt;font-family:"Cambria","serif";color:#1F497D;mso-fareast-language:EN-AU"><a href="mailto:niall@scienceinpublic.com.au"><span style="color:#1F497D;text-decoration:none">niall@scienceinpublic.com.au</span></a><o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:9.0pt;font-family:"Cambria","serif";color:#1F497D;mso-fareast-language:EN-AU">Twitter scienceinpublic<o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:9.0pt;font-family:"Cambria","serif";color:#1F497D;mso-fareast-language:EN-AU">Full contact details at
<a href="http://www.scienceinpublic.com.au/blog"><span style="color:#1F497D;text-decoration:none">www.scienceinpublic.com.au/blog</span></a> <o:p></o:p></span></p>
<p class="MsoNormal"><o:p> </o:p></p>
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