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Frameshift mutations of the ARX gene in familial Ohtahara syndrome

✍ Scribed by Mitushiro Kato; Norihisa Koyama; Masayasu Ohta; Kiyokuni Miura; Kiyoshi Hayasaka


Book ID
109112690
Publisher
Wiley (Blackwell Publishing)
Year
2010
Tongue
English
Weight
386 KB
Volume
51
Category
Article
ISSN
0013-9580

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## Abstract Recently, it has been reported that longer expansions of the polyalanine tract of the __ARX__ gene could cause an early infantile encephalopathy with suppression burst pattern and that the length of this repeat region could be related to the severity of the electroclinical picture. We d