Epilepsy in ring 14 syndrome: A clinical and EEG study of 22 patients

Simona Giovannini, Lucia Marangio, Carlo Fusco, Angela Scarano, Daniele Frattini, Elvio Della Giustina, Marcella Zollino, Giovanni Neri, Giuseppe Gobbi

Research output: Contribution to journalArticle

Abstract

Purpose To characterize epileptic phenotype, electroencephalography (EEG) features, and epileptic evolution in patients with ring 14 r(14) syndrome. Methods Twenty-two patients with ring chromosome 14 were enrolled in the study. We examined age at onset, seizure semiology and frequency at onset and at follow-up, drug responsiveness/resistance, and interictal/ictal EEG data. The degree of severity of the epileptic phenotype negatively influences child cognitive development. Key Findings The incidence of epilepsy in patients with r(14) syndrome is virtually 100%, characterized by early onset, polymorphic seizures, and drug-resistant seizures. In addition, we ascertained focal secondarily generalized epilepsy, seizure cluster tendency, frequent status epilepticus, and a rather typical epilepsy evolution. EEG abnormalities consisted of slow background activity with pseudoperiodic bursts of generalized slow waves in the early stage, focal frontotemporal or temporoposterior slow waves with multifocal spikes interposed, and unusual rhythmic fast recruiting posterior spikes followed by secondary generalization. The degree of severity of the epileptic phenotype negatively influences child cognitive development. Significance This study provides a more precise definition of seizure types, natural history, and drug responsiveness of r(14) syndrome, a highly epileptogenic chromosomal condition.

Original languageEnglish
Pages (from-to)2204-2213
Number of pages10
JournalEpilepsia
Volume54
Issue number12
DOIs
Publication statusPublished - Dec 2013

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Keywords

  • Childhood epilepsy
  • Electroclinical phenotype
  • Epileptic evolution
  • Ring 14 syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Giovannini, S., Marangio, L., Fusco, C., Scarano, A., Frattini, D., Della Giustina, E., Zollino, M., Neri, G., & Gobbi, G. (2013). Epilepsy in ring 14 syndrome: A clinical and EEG study of 22 patients. Epilepsia, 54(12), 2204-2213. https://doi.org/10.1111/epi.12393