European Journal of Human Genetics

FIGURE 3

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Early onset seizures and Rett-like features associated with mutations in CDKL5

Julie C Evans, Hayley L Archer, James P Colley, Kirstine Ravn, Jytte Bieber Nielsen, Alison Kerr, Elizabeth Williams, John Christodoulou, Jozef Gécz, Philip E Jardine, Michael J Wright, Daniela T Pilz, Lazarus Lazarou, David N Cooper, Julian R Sampson, Rachel Butler, Sharon D Whatley and Angus J Clarke

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Figure 3.

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(a) Sequence trace showing the I72N mutation in patient 3 (top) compared to a normal control (bottom). (b) Multiple alignment of CDKL5 sequences showing strong sequence conservation around the I72N mutation (GenBank accession numbers NM_003159, BAC34965, XP_42557 and AAD28798). (c) (Online Supplementary Information) Photograph of patient 3 aged 11 years.

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