Concepedia

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

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

Epilepsia · 2009 · 70 citations · 29 references

DOI

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

29

A Proposed Diagnostic Scheme for People with Epileptic Seizures and with Epilepsy: Report of the ILAE Task Force on Classification and Terminology

Jerome Engel · Epilepsia · 2001 · 2.2K citations · Full text

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

Hirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi et al. · Nature Genetics · 2008 · 539 citations

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Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

Linda S. Weaving, John Christodoulou, Sarah Williamson et al. · The American Journal of Human Genetics · 2004 · 498 citations · Full text

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Positional cloning of the gene associated with X-linked juvenile retinoschisis

Christian Sauer, Andrea Gehrig, Regina Warneke-Wittstock et al. · Nature Genetics · 1997 · 492 citations

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Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

Christel Depienne, Delphine Bouteiller, Boris Keren et al. · PLoS Genetics · 2009 · 368 citations · Full text

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