Pediatric Neurology Department, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland.
Epilepsy Centre, Neurology Department of Neurology, Reproductive and Odontostomatology, Federico II University, Naples, Italy.
Epilepsia Open. 2024 Aug;9(4):1192-1232. doi: 10.1002/epi4.12951. Epub 2024 Jun 4.
Chromosomal abnormalities are associated with a broad spectrum of clinical manifestations, one of the more commonly observed of which is epilepsy. The frequency, severity, and type of epileptic seizures vary according to the macro- and microrearrangements present. Even within a single chromosomal anomaly, we most often deal with a phenotypic spectrum. The aim of the study was to look for chromosomal rearrangements with a characteristic electroencephalographic pattern. Only a few disorders have peculiar electroclinical abnormalities: 1p36, 4p16, 6q terminal or trisomy 12p, Angelman syndrome, inv dup 15, 15q13.3 deletions, ring 20, Down syndrome, or Xp11.22-11.23 duplication. We also reviewed studies on epileptic seizures and typical electroencephalographic patterns described in certain chromosomal rearrangements, focusing on the quest for potential electroclinical biomarkers. The comprehensive review concludes with clinical presentations of the most common micro and macro chromosomal rearrangements, such as 17q21.31 microdeletion, 6q terminal deletion, 15q inv dup syndrome, 2q24.4 deletion, Xp11.22-11.23 duplication, 15q13.3 microdeletion, 1p36 terminal deletion, 5q14.3 microdeletion, and Xq28 duplication. The papers reviewed did not identify any specific interictal electroencephalographic patterns that were unique and significant biomarkers for a given chromosomal microrearrangement. The types of seizures described varied, with both generalized and focal seizures of various morphologies being reported. Patients with chromosomal anomalies may also meet the criteria for specific epileptic syndromes such as Infantile Epilepsy Spasms Syndrome (IESS, West syndrome): 16p13.11, 15q13.3 and 17q21.31 microdeletions, 5q inv dup. syndrome; Dravet syndrome (2q24.4 deletion), Lennox-Gastaut syndrome (15q11 duplication. 1q13.3, 5q inv dup.); or Self-Limited Epilepsy with Autonomic Features (SeLEAS, Panayiotopoulos syndrome: terminal deletion of 6q.n), Self-Limited Epilepsy with Centrotemporal Spikes (SeLECT): fragile X syndrome. It is essential to better characterize groups of patients to more accurately define patterns of epilepsy and EEG abnormalities. This could lead to new treatment strategies. Future research is required to better understand epileptic syndromes and chromosomal rearrangements. PLAIN LANGUAGE SUMMARY: This paper presents EEG recording abnormalities in patients with various gene abnormalities that can cause epilepsy. The authors summarize these EEG variations based on a literature review to see if they occur frequently enough in other chromosomal abnormalities (in addition to those already known) to be a clue for further diagnosis.
染色体异常与广泛的临床表现相关，其中较为常见的一种是癫痫。癫痫发作的频率、严重程度和类型取决于存在的宏观和微观重排。即使在单一染色体异常中，我们也经常会遇到表型谱。本研究旨在寻找具有特征性脑电图模式的染色体重排。只有少数疾病具有特殊的电临床异常：1p36、4p16、6q 末端或三体 12p、Angelman 综合征、inv dup 15、15q13.3 缺失、环状 20、唐氏综合征或 Xp11.22-11.23 重复。我们还回顾了关于癫痫发作和某些染色体重排中描述的典型脑电图模式的研究，重点是寻找潜在的电临床生物标志物。全面审查的结论是最常见的微和宏观染色体重排的临床表现，例如 17q21.31 微缺失、6q 末端缺失、15q inv dup 综合征、2q24.4 缺失、Xp11.22-11.23 重复、15q13.3 微缺失、1p36 末端缺失、5q14.3 微缺失和 Xq28 重复。综述的论文没有发现任何特定的发作间期脑电图模式，这些模式对于给定的染色体微重排是独特和重要的生物标志物。描述的癫痫发作类型不同，既有各种形态的全面性和局灶性发作。染色体异常的患者也可能符合特定癫痫综合征的标准，例如婴儿癫痫痉挛综合征（IESS，West 综合征）：16p13.11、15q13.3 和 17q21.31 微缺失、5q inv dup 综合征；Dravet 综合征（2q24.4 缺失）、Lennox-Gastaut 综合征（15q11 重复.1q13.3、5q inv dup）；或自主特征有限性癫痫（SeLEAS，Panayiotopoulos 综合征：6q.n 末端缺失）、自主特征有限性癫痫伴中央颞区棘波（SeLECT）：脆性 X 综合征。更好地描述患者群体以更准确地定义癫痫和脑电图异常模式至关重要。这可能会导致新的治疗策略。需要进一步的研究来更好地理解癫痫综合征和染色体重排。
