Rett syndrome (RS) is an X-linked neurodevelopmental disorder, occurring in females. Recently RS has been associated with mutation of the gene MECP2. Epilepsy (E) is frequent in RS. We present nine RS patients, in whom MECP2 mutations were identified. Seven suffered from epileptic seizures. We analyze the main features of E for a correlation with the MECP2 mutation types (missense or truncating).
Santucci M., Cecconi I., Ambrosetto G., Sangiorgi S., Posar A., Belmonte S., et al. (2002). Rett syndrome: Epilepsy characteristics in correlation with the MECP2 mutation. BOLLETTINO-LEGA ITALIANA CONTRO L'EPILESSIA, 118, 55-58.
Rett syndrome: Epilepsy characteristics in correlation with the MECP2 mutation
Santucci M.;Ambrosetto G.;Sangiorgi S.;Posar A.;Belmonte S.;Giovanardi-Rossi P.
2002
Abstract
Rett syndrome (RS) is an X-linked neurodevelopmental disorder, occurring in females. Recently RS has been associated with mutation of the gene MECP2. Epilepsy (E) is frequent in RS. We present nine RS patients, in whom MECP2 mutations were identified. Seven suffered from epileptic seizures. We analyze the main features of E for a correlation with the MECP2 mutation types (missense or truncating).File in questo prodotto:
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