title: Epilepsy in ring 14 chromosome syndrome.
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.
authors.affiliation: Neurology Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy. nicola.specchio@opbg.net
authors.forename: Nicola
authors.initials: N
authors.lastname: Specchio
authors.forename: Marina
authors.initials: M
authors.lastname: Trivisano
authors.forename: Domenico
authors.initials: D
authors.lastname: Serino
authors.forename: Simona
authors.initials: S
authors.lastname: Cappelletti
authors.forename: Antonio
authors.initials: A
authors.lastname: Carotenuto
authors.forename: Dianela
authors.initials: D
authors.lastname: Claps
authors.forename: Carlo Efisio
authors.initials: CE
authors.lastname: Marras
authors.forename: Lucia
authors.initials: L
authors.lastname: Fusco
authors.forename: Maurizio
authors.initials: M
authors.lastname: Elia
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
mesh_terms: D001921:Brain / Q000503:physiopathology; D025063:Chromosome Disorders / Q000150:complications*; D002883:Chromosomes, Human, Pair 14 / Q000502:physiology; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000209:etiology / Q000235:genetics; D004827:Epilepsy / Q000209:etiology / Q000235:genetics*; D004829:Epilepsy, Generalized / Q000209:etiology / Q000235:genetics; D006801:Humans; D012303:Ring Chromosomes; D013577:Syndrome