Xp22.3 genomic deletions involving the <i>CDKL5</i> gene in girls with early onset epileptic encephalopathy - Concepedia

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Xp22.3 genomic deletions involving the <i>CDKL5</i> gene in girls with early onset epileptic encephalopathy

70

Citations

29

References

2009

Year

Davide Mei, Carla Marini, Francesca Novara, Bernardo Dalla Bernardina, Tiziana Granata, Elena Fontana, Elena Parrini, Anna Rita Ferrari, Alessandra Murgia, Orsetta Zuffardi,

Abstract

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.

References

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