Epilepsy in Rett syndrome: clinical and genetic features.
Epilepsy often occurs in Rett syndrome and is considered a major problem. The aim of this study was to define the clinical features of epilepsy and the correlation between seizures and both genotype and clinical phenotype in the Rett population. One hundred sixty-five patients with Rett syndrome referred to four Italian centers were recruited. All patients underwent video/EEG monitoring and molecular analysis of the MECP2 gene or, in negative cases, of the CDKL5 and FOXG1 genes. The frequency of epilepsy was 79%. Drug-resistant epilepsy occurred in 30% of all our patients with Rett syndrome and in 38% of those with epilepsy. Our findings demonstrate that epilepsy differs among the various phenotypes and genotypes with respect to age at onset, drug responsiveness, and seizure semiology. The Hanefeld and preserved speech variants represent the extremes of the range of severity of epilepsy: the preserved speech variant is characterized by the mildest epileptic phenotype as epilepsy is much less frequent, starts later, and is less drug resistant than what is observed in the other phenotypes. Another important finding is that seizure onset before 1 year of age and daily frequency are risk factors for drug resistance. Thus, this study should help clinicians provide better clinical counseling to the families of patients with Rett syndrome.
Pintaudi
Maria
M
Department of Child Neuropsychiatry, Epilepsy Centre, G. Gaslini Institute, University of Genoa, Genoa, Italy. mariapintaudi@hotmail.com
Calevo
Maria Grazia
MG
Vignoli
Aglaia
A
Parodi
Elena
E
Aiello
Francesca
F
Baglietto
Maria Giuseppina
MG
Hayek
Yussef
Y
Buoni
Sabrina
S
Renieri
Alessandra
A
Russo
Silvia
S
Cogliati
Francesca
F
Giordano
Lucio
L
Canevini
Mariapaola
M
Veneselli
Edvige
E
D000328:Adult; D017668:Age of Onset; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D004827:Epilepsy / Q000209:etiology / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012189:Retrospective Studies; D015518:Rett Syndrome / Q000150:complications / Q000235:genetics*; D055815:Young Adult
D051783:Methyl-CpG-Binding Protein 2; D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human