TY - JOUR
T1 - Epilepsy in ring 14 chromosome syndrome
AU - Specchio, Nicola
AU - Trivisano, Marina
AU - Serino, Domenico
AU - Cappelletti, Simona
AU - Carotenuto, Antonio
AU - Claps, Dianela
AU - Marras, Carlo Efisio
AU - Fusco, Lucia
AU - Elia, Maurizio
AU - Vigevano, Federico
PY - 2012/12
Y1 - 2012/12
N2 - 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.
AB - 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.
KW - Drug-resistant epilepsy
KW - EEG finding
KW - Epilepsy
KW - Ring chromosome 14
KW - Seizure semiology
UR - http://www.scopus.com/inward/record.url?scp=84871826134&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84871826134&partnerID=8YFLogxK
U2 - 10.1016/j.yebeh.2012.09.032
DO - 10.1016/j.yebeh.2012.09.032
M3 - Article
C2 - 23159383
AN - SCOPUS:84871826134
VL - 25
SP - 585
EP - 592
JO - Epilepsy and Behavior
JF - Epilepsy and Behavior
SN - 1525-5050
IS - 4
ER -