Epilepsy in Rett syndrome--lessons from the Rett networked database
- Nissenkorn, Andreea
- Levy-Drummer, Rachel S
- Bondi, Ori
- Renieri, Alessandra
- Villard, Laurent
- Mari, Francesca
- Mencarelli, Maria A
- Lo Rizzo, Caterina
- Meloni, Ilaria
- Pineda, Mercedes
- Armstrong, Judith
- Clarke, Angus
- Bahi-Buisson, Nadia
- Mejaski, Bosnjak Vlatka
- Djuric, Milena
- Craiu, Dana
- Djukic, Alexsandra
- Pini, Giorgio
- Bisgaard, Anne Marie
- Melegh, Bela
- Vignoli, Aglaia
- Russo, Silvia
- Anghelescu, Cristina
- Veneselli, Edvige
- Hayek, Joussef
- Ben-Zeev, Bruria
DOIAbstract
Rett syndrome is an X-linked dominant neurodevelopmental disorder caused by mutations in the MECP2 gene, and characterized by cognitive and communicative regression, loss of hand use, and midline hand stereotypies. Epilepsy is a core symptom, but literature is controversial regarding genotype-phenotype correlation. Analysis of data from a large cohort should overcome this shortcoming
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