title: Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome.
abstract: Epilepsy is the most common and serious neurological symptom in ring chromosome 14 syndrome, also characterised by mild dysmorphisms, acquired microcephaly, cognitive impairment, hypotonia and ocular abnormalities. Typically, early-onset, polymorphous and drug-resistant seizures are reported. Status epilepticus has not been previously reported. We describe a nine-year-old Caucasian boy with ring 14 syndrome who presented a severe early-onset and drug-resistant focal epilepsy with secondary generalised seizures and repetitive episodes of convulsive and non-convulsive status epilepticus. The electro-clinical evaluation of prolonged seizures and their long-term consequences is important for the practical management of these patients and for a better comprehension of the syndrome.
authors.affiliation: Neuropsichiatria Infantile, Ospedale Maggiore, Bologna, Italy. giovanninisimona@libero.it
authors.forename: Simona
authors.initials: S
authors.lastname: Giovannini
authors.forename: Daniele
authors.initials: D
authors.lastname: Frattini
authors.forename: Angela
authors.initials: A
authors.lastname: Scarano
authors.forename: Carlo
authors.initials: C
authors.lastname: Fusco
authors.forename: Gianna
authors.initials: G
authors.lastname: Bertani
authors.forename: Elvio
authors.initials: E
authors.lastname: Della Giustina
authors.forename: Paola
authors.initials: P
authors.lastname: Martinelli
authors.forename: Daniela
authors.initials: D
authors.lastname: Orteschi
authors.forename: Marcella
authors.initials: M
authors.lastname: Zollino
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Gobbi
mesh_terms: D002648:Child; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000150:complications / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D008297:Male; D012303:Ring Chromosomes; D012640:Seizures / Q000150:complications / Q000503:physiopathology*; D012890:Sleep / Q000502:physiology; D013226:Status Epilepticus / Q000235:genetics / Q000503:physiopathology*; D014851:Wakefulness / Q000502:physiology