A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)

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A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome) Mitsuhiro Kato, Shinji Saitoh, Atsushi Kamei, Hideaki Shiraishi, Yuki Ueda, Manami Akasaka, Jun Tohyama, Noriyuki Akasaka, Kiyoshi Hayasaka The American Journal of Human Genetics Volume 81, Issue 2, Pages 361-366 (August 2007) DOI: 10.1086/518903 Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 1 A, Photograph of patient 1's external genitalia, showing a small penis with an apparently normal scrotum. B, Interictal EEG of patient 1, showing an asynchronous pattern, with high-voltage slow wave bursts mixed with spikes and sharp waves, and a low-voltage suppression background. C, Brain MRI of patient 1, demonstrating lateral ventricular dilatation with a frontal dominancy, suggesting a small caudate nucleus, thin corpus callosum (not shown), and delayed myelination in the white matter. The American Journal of Human Genetics 2007 81, 361-366DOI: (10.1086/518903) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 2 A, Brain MRI of patient 2 at the age of 8 WK shows dilatation of the anterior horns of the lateral ventricle and apparently normal gyri. B, Interictal EEG of patient 2 shows a marked depression of background activity, intermixed with asymmetric paroxysmal bursts. The American Journal of Human Genetics 2007 81, 361-366DOI: (10.1086/518903) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 3 The structure of exon 2 of the ARX gene and representative electropherograms in patient 1 and his parents. Both parents have the wild-type sequence encoding 16 alanine residues, whereas the patient has a hemizygous mutant sequence with a duplication of 33 bp, which encodes 11 alanine residues and results in an expanded repeat of 27 alanine residues. Polyalanine tract (A), nuclear localization sequence (N), and homeobox (H) are illustrated in the structure of exon 2.9 The American Journal of Human Genetics 2007 81, 361-366DOI: (10.1086/518903) Copyright © 2007 The American Society of Human Genetics Terms and Conditions