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Dell'Isola, Giovanni Battista; Mencaroni, Elisabetta; Prontera, Paolo; Cara, Giuseppe Di; Ferraro, Luigi; Bonanni, Paolo; Carotenuto, Marco; Iapadre, Giulia; Matricardi, Sara; Operto, Francesca; Orsini, Alessandro; Parisi, Pasquale; Pavone, Piero; Salpietro, Vincenzo; Savasta, Salvatore; Striano, Pasquale; Verrotti, Alberto
Seizure (London, England), November 2022, 2022-11-00, 20221101, Letnik: 102Journal Article
Triple X syndrome, is an often undiagnosed chromosomal abnormality with an incidence of 1/1000 females. Main associated disorders are urogenital malformations, premature ovarian failure or primary amenorrhea, gastrointestinal problems, psychiatric disorders and epilepsy. To date, triple X is not related to a specific epileptic syndrome. Therefore, the purpose of this clinical series is to analyze seizure semiology, electroencephalogram features and the long-term outcome of 13 patients with epilepsy and triple X syndrome. We retrospectively evaluated the long-term seizure outcome in patients with triple X syndrome who had been referred to 11 Epilepsy Centers in Italy. A close electroclinical follow-up was made for at least 2 years and outcomes were reported. Our case series confirms that epilepsy is not an occasional finding but part of the phenotypic spectrum of this syndrome. The seizure semiology shows an higher prevalence of focal seizures in 62% of patients. EEG findings of focal epileptic activity were reported in 85% of patients. Anti-seizure medications were successful in all our patients whom in most cases were responsive to monotherapy. According to our case series most successful drugs were VPA and LEV. Long term prognosis of epilepsy in our case series was good. Our experience suggests that all triple X patients achieve good seizure control and in 69% of cases normalization of the EEG.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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