Concepedia

Epilepsy in Rett syndrome: Clinical and genetic features

Maria Pintaudi, Maria Grazia Calevo, Aglaia Vignoli, Elena Biggi Parodi, Francesca Aiello, M. G. Baglietto, Sabrina Buoni, Alessandra Renieri, Silvia Russo, Francesca Cogliati,

Epilepsy & Behavior · 2010 · 82 citations · 24 references

DOIFull text

Open access

Concepts

References

24

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Ruthie E. Amir, Ignatia B. Van den Veyver, Mimi Wan et al. · Nature Genetics · 1999 · 5K citations

, , +9

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

, , +12

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

Francesca Ariani, Dalila Rondinella, Rosangela Artuso et al. · The American Journal of Human Genetics · 2008 · 434 citations · Full text

, , +7

An update on clinically applicable diagnostic criteria in Rett syndrome

Bengt Hagberg, F. Hanefeld, Alan K. Percy et al. · European Journal of Paediatric Neurology · 2002 · 394 citations

, , +6

MECP2 mutations account for most cases of typical forms of Rett syndrome

Thierry Bienvenu · Human Molecular Genetics · 2000 · 308 citations · Full text

, , +15