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CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
J Med Genet. 2006 Sep;43(9):729-34. doi: 10.1136/jmg.2006.041467. Epub 2006 Apr 12.
J Med Genet. 2006.
PMID: 16611748
Free PMC article.
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.
Melani F, Mei D, Pisano T, Savasta S, Franzoni E, Ferrari AR, Marini C, Guerrini R.
Melani F, et al.
Dev Med Child Neurol. 2011 Apr;53(4):354-60. doi: 10.1111/j.1469-8749.2010.03889.x. Epub 2011 Feb 11.
Dev Med Child Neurol. 2011.
PMID: 21309761
Free article.
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