Epilepsy and chromosomal abnormalities

Abstract

BackgroundMany chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders.MethodsDetailed clinical assessment, electrophysiological studies, survey of the literature.ResultsIn some of these congenital syndromes the clinical presentation and EEG anomalies seems to be quite typical, in others the manifestations appear aspecific and no strictly linked with the chromosomal imbalance. The onset of seizures is often during the neonatal period of the infancy.ConclusionsA better characterization of the electro clinical patterns associated with specific chromosomal aberrations could give us a valuable key in the identification of epilepsy susceptibility of some chromosomal loci, using the new advances in molecular cytogenetics techniques - such as fluorescent in situ hybridization (FISH), subtelomeric analysis and CGH (comparative genomic hybridization) microarray. However further studies are needed to understand the mechanism of epilepsy associated with chromosomal abnormalities.

Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy

“…In addition, 1p36 monosomy, 18q syndrome, and Angelman syndrome should also be considered in differential diagnosis. 50,51 In early-onset epileptic encephalopathies, EEG abnormalities range from focal and multifocal patterns, disorganized or background slowing, generalized anomalies, and periodic EEG rhythms, such as suppression-burst and hypsarrhythmia. 52 Pattern to pattern transitions can also be frequently seen.…”

Ischemic injury suppresses hypoxia-induced electrographic seizures and the background EEG in a rat model of perinatal hypoxic-ischemic encephalopathy

“…Prolonged periods of hypoxia alone (Ha; e.g., birth asphyxia or apnea) or hypoxia-ischemia (HI; e.g., perinatal stroke) are thought to be a major cause of neonatal seizures, but metabolic disturbances, encephalitis, and genetic abnormalities can also lead to seizures in neonates (Sarnat and Sarnat 1976;Finer et al 1981; Watanabe et al 1982a,b;Corey et al 1988;Mercuri et al 1999;Marin-Padilla 2000;Nelson and Lynch 2004;Malm 2009;Sorge and Sorge 2010). Although considerable EEG data are available on neonatal seizures, their predictive value is poor because outcomes range from benign to devastating.…”

Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy

“…Задержка развития обычно отмечается с рождения и часто со-провождается мышечной гипотонией. При некоторых хромосомных перестройках можно выделить характер-ный фенотип, например при делеции короткого плеча хромосомы 4 (синдром Вольфа-Хиршхорна), микро-делеции короткого плеча хромосомы 17 (синдром Миллера-Дикера), микроделеции длинного плеча хромосомы 15 (синдром Ангельмана) [31][32][33], но в большинстве случаев фенотип неспецифичен. Ве-рифицировать хромосомную патологию можно цито-генетическим методом, но при малых размерах дис-баланса необходимо проведение молекулярного кариотипа (хромосомного микроматричного анализа).…”