Grosso Salvatore, Pucci Lucia, Curatolo Paolo, Coppola Giangennaro, Bartalini Gabriella, Di Bartolo Rosanna, Scarinci Renato, Renieri Alessandra, Balestri Paolo
Department of Pediatrics, Pediatric Neurology Section, University of Siena, Italy.
Epilepsy Res. 2008 Mar;79(1):63-70. doi: 10.1016/j.eplepsyres.2007.12.011. Epub 2008 Feb 20.
Epilepsy and electroencephalographic (EEG) anomalies are common in subjects carrying chromosomal aberrations. We report clinical and EEG investigations on 13 patients carrying chromosome 2 anomalies, including two patients with inversions, six with translocations, two with partial duplications and three with interstitial deletion syndromes. Epilepsy and/or EEG anomalies were found in one patient with a chromosome 2 translocation, in both of those carrying partial duplications and in all three with interstitial deletion syndromes. No epilepsy or EEG anomalies were detected in the remaining patients.
Epilepsy may be associated with chromosome 2 aberrations. Gross rearrangements involving the long arm of chromosome 2 might be more often associated with epilepsy than those involving the short arm. The association of epilepsy with chromosome 2 duplications is less clear. In particular, our observations and a review of the literature appear to suggest that a strict relationship between epilepsy and interstitial deletions involving the 2q24-q31 region. In the latter disorder tonic and focal seizures occur early in life. Generalized and focal myoclonic jerks tend to appear in infancy and are subsequently followed by seizures mixed in type. Seizures usually persist up to late childhood and are drug resistant. Further studies are necessary to better define the electroclinical patterns of patients carrying deletions in 2q24-q31. These may help to direct systematic study of this--probably underestimated--cause of severe epilepsy.
癫痫和脑电图（EEG）异常在携带染色体畸变的个体中很常见。我们报告了13例携带2号染色体异常患者的临床和EEG检查情况，其中包括2例倒位患者、6例易位患者、2例部分重复患者和3例间质缺失综合征患者。在1例2号染色体易位患者、2例部分重复患者和所有3例间质缺失综合征患者中发现了癫痫和/或EEG异常。其余患者未检测到癫痫或EEG异常。
癫痫可能与2号染色体畸变有关。涉及2号染色体长臂的大片段重排可能比涉及短臂的更常与癫痫相关。癫痫与2号染色体重复的关联尚不清楚。特别是，我们的观察和文献综述似乎表明癫痫与涉及2q24-q31区域的间质缺失之间存在严格关系。在后一种疾病中，强直和局灶性发作在生命早期出现。全身性和局灶性肌阵挛抽搐往往在婴儿期出现，随后出现混合型发作。发作通常持续到儿童晚期且耐药。需要进一步研究以更好地界定2q24-q31区域缺失患者的电临床模式。这可能有助于指导对这种——可能被低估的——严重癫痫病因的系统研究。
