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See Latest ArticlesXp22.3 Genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy
Epilepsia, 09/29/09
Mei D et al. – CDKL5 gene deletions are an under–ascertained cause of early onset intractable epilepsy in girls. Genetic testing of CDKL5, including both mutation and deletion/duplication analysis, should be considered in this clinical subgroup.
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