Epilepsy in ring 14 chromosome syndrome

Nicola Specchio, Marina Trivisano, Domenico Serino, Simona Cappelletti, Antonio Carotenuto, Dianela Claps, Carlo Efisio Marras, Lucia Fusco, Maurizio Elia, Federico Vigevano

Research output: Contribution to journalArticlepeer-review

Abstract

Ring chromosome 14 [r(14)] is a rare disorder. The aim of this study was to describe two new cases of r(14) drug-resistant epilepsy, and, through an extensive review of literature, highlight those epileptological features which are more commonly found and which may help in early diagnosis, genetic counseling, and treatment. Epilepsy onset in r(14) syndrome takes place during the first year of life; seizures are generalized or focal and less frequently myoclonic. Seizures might be induced by fever. Focal seizures are characterized by staring, eye or head deviation, respiratory arrest, swallowing, and hypertonia/hypotonia or clonic movements. Ictal EEG might show both focal and diffuse discharges. Interictal EEG reveals mainly focal abnormalities. Mental retardation represents a constant feature. Neurological assessment yields a delay in motor skill acquisition and less frequently both pyramidal and cerebellar signs. Dysmorphic features are evident in the majority of cases. Epilepsy associated with r(14) has many features that entail a challenging diagnostic process. The reported cases of r(14)-related epilepsy seem to highlight a series of common elements which may be helpful in pointing the clinician towards a correct diagnosis.

Original languageEnglish
Pages (from-to)585-592
Number of pages8
JournalEpilepsy and Behavior
Volume25
Issue number4
DOIs
Publication statusPublished - Dec 2012

Keywords

  • Drug-resistant epilepsy
  • EEG finding
  • Epilepsy
  • Ring chromosome 14
  • Seizure semiology

ASJC Scopus subject areas

  • Clinical Neurology
  • Behavioral Neuroscience
  • Neurology

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