| 1 | MBD5, MRD1
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| Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
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| Myers KA, Marini C, Carvill GL, McTague A, Panetta J, Stutterd C, Stanley T, Marin S, Nguyen J, Barba C, Rosati A, Scott RH, Mefford HC, Guerrini R, Scheffer IE.
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| Neurol Genet. Mar 18;7(2):e579. doi: 10.1212/NXG.0000000000000579. 2021
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| 2 | MBD5, MRD1
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| A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?
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| Verhoeven W, Egger J, Kipp J, Verheul-Aan de Wiel J, Ockeloen C, Kleefstra T, Pfundt R.
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| Mol Genet Genomic Med. Aug;7(8):e849. doi: 10.1002/mgg3.849. Epub 2019 Jul 9. 2019
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| 3 | MBD5, MRD1
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| Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy
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| Han JY, Lee IG, Jang W, Kim M, Kim Y, Jang JH, Park J.
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| Eur J Med Genet. Oct;60(10):559-564. doi: 10.1016/j.ejmg.2017.08.003. Epub 2017 Aug 12 2017
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| 4 | DEL2Q23, MRD1
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| Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)
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| Mullegama SV, Elsea SH.
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| Eur J Hum Genet. Aug;24(9):1235-43. doi: 10.1038/ejhg.2016.35. Epub 2016 May 25. Erratum in: Eur J Hum Genet. 2016 Aug;24(9):1376. PMID: 2016
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| 5 | MBD5, MRD1
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| Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
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| Bonnet C, Ali Khan A, Bresso E, Vigouroux C, Béri M, Lejczak S, Deemer B, Andrieux J, Philippe C, Moncla A, Giurgea I, Devignes MD, Leheup B, Jonveaux P.
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| Eur J Hum Genet. Dec;21(12):1457-61. doi: 10.1038/ejhg.2013.22. Epub 2013 Feb 20. 2013
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