| 1 | ARX, CDKL5, EIEE1, EIEE2, ISSX
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| CDKL5 and ARX mutations in males with early-onset epilepsy.
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| Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S.
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| Pediatr Neurol 48(5):367-77. doi: 10.1016/j.pediatrneurol.2012.12.030. Erratum in: Pediatr Neurol. 2013 Jul;49(1):74. Alkhateeb, Asem [added].
2013
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| 2 | ARX, EIEE1
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| A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.
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| Ekşioğlu YZ, Pong AW, Takeoka M.
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| Epilepsia 52(5):984-92. doi: 10.1111/j.1528-1167.2011.02980.x. Epub 2011 Mar 22.
2011
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| 3 | ARX, EIEE1
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| Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).
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| Fullston T, Brueton L, Willis T, Philip S, MacPherson L, Finnis M, Gecz J, Morton J.
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| Eur J Hum Genet 18(2):157-62. Epub 2009 Sep 9.PMID: 19738637 2010
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