Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

Singh, Rita; Gardner, R. J McKinlay; Crossland, Kathryn M.; Scheffer, Ingrid E.; Berkovic, Samuel F.

doi:10.1046/j.1528-1157.2002.19498.x

Cited by 111 publications

(122 citation statements)

References 184 publications

(194 reference statements)

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“…14,15 In cases of chromosomal abnormalities, the characteristics of epilepsy are considered to be non-specific, difficult to classify according to the International Classification of Epilepsy, 15 and often resistant to treatment. 16,17 However, some chromosomal abnormalities, such as ring 20 syndrome 18,19 and Angelman syndrome, 20 are associated with a particular electroclinical pattern, which may even be suggestive of a particular diagnosis. Our literature review identified several cases with characteristics in common with the four cases reported here.…”

Section: Discussionmentioning

confidence: 99%

Ring 14 chromosome presenting as early‐onset isolated partial epilepsy

Ville¹,

Bellescize²,

Nguyen³

et al. 2009

Develop Med Child Neuro

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We report four infants (two males, two females) with ring 14 chromosome presenting with early‐onset partial epilepsy. The first seizure occurred between 3 and 6 months (3, 3, 4, and 6mo respectively). In all four cases, diagnosis was based on early focal seizures, rather than on psychomotor retardation or morphological features, which were not prominent at seizure onset. Moreover, despite the young age of the patients and the high frequency of seizures, neither epileptic spasms nor progression to ‘epileptic encephalopathy’, such as hypsarrhythmia, were observed. Epilepsy remained partial in these patients. At the most recent follow‐up, all four children had slight or mild psychomotor delay, and two of them had moderate non‐specific dysmorphic traits. Data from the literature about epilepsy in ring 14 chromosome syndrome were also reviewed. Ring 14 chromosome syndrome may be revealed by isolated, early‐onset focal epilepsy suggestive of focal lesions with only mild mental retardation and morphological features at the time of diagnosis. The characteristics of these observations differ from classic ring 14 syndrome, and may enlarge this clinical spectrum. Many unanswered questions remain concerning phenotype–genotype correlation and identification of the potential genes and molecular mechanisms responsible for epilepsy in patients with ring 14 syndrome.

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Section: Discussionmentioning

confidence: 99%

Ring 14 chromosome presenting as early‐onset isolated partial epilepsy

Ville¹,

Bellescize²,

Nguyen³

et al. 2009

Develop Med Child Neuro

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“…27,28 To date no less than 400 different chromosomal imbalances have been associated with seizures or EEG abnormalities consisting in either deletions or duplications. 29 The 8q24 region was previously implicated in different forms of epilepsy (MIM 601068; MIM 603210; MIM 606970; MIM 607876; MIM 600131; MIM 602232; MIM 121201; MIM 138251). The KCNQ3 locus, whose mutations are associated to BFNC (benign familial neonatal convulsions, MIM 121200), lies 10 Mb upstream from the 8q segment duplicated in our patient.…”

Section: Discussionmentioning

confidence: 99%

A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype

et al. 2005

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Chromosome duplications are found in about 2% of subjects with a typical chromosomal phenotype but their frequency is likely to be higher, as suggested by the first array-CGH data. According to the orientation of the duplicated segment, duplications may be in tandem or inverted. The latter are usually associated with a distal deletion. We studied a de novo 2.3 Mb inverted duplication of 8q24.3 without apparently associated deletion in a subject with profound psychomotor retardation, idiopathic epilepsy and growth delay. In spite of its small size, the presence of the rearrangement was suspected on standard karyotypes (approximately 400 bands) and later confirmed by Fluorescent in situ hybridization (FISH) analysis. We hypothesize that the GRINA gene, a glutamate binding subunit of NMDA receptor ion channel lying within the duplicated segment, may be responsible for the epilepsy. This paper confirms that small subtelomeric de novo duplications may be responsible for mental retardation, facial dysmorphisms and/or congenital malformations, although their presence may be overlooked by FISH analysis.

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“…Not only do they contribute to chromosomal integrity and to cellular homeostasis, but they also encode several transcripts (12,80). Interestingly, the telomeric regions where the majority of HHV-6 insertions occur are also associated with rare syndromes (e.g., Miller-Dieker syndrome, which is associated with microdeletion and/or LIS-1 gene alteration in chromosome 17p13.3; chromosome 9q subtelomere deletion syndrome; and 18q syndrome, which is associated with an 18q23 deletion [79,[84][85][86]). CIHHV-6 is likely not responsible for these diseases, but the possibility of similar chromosomal alterations caused by HHV-6 integration in these areas is of interest.…”

Section: Cihhv-6-associated Pathologiesmentioning

confidence: 99%

Herpesviruses and Chromosomal Integration

Morissette

Flamand

2010

J Virol

203

164

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Herpesviruses are members of a diverse family of viruses that colonize all vertebrates from fish to mammals. Although more than one hundred herpesviruses exist, all are nearly identical architecturally, with a genome consisting of a linear double-stranded DNA molecule (100 to 225 kbp) protected by an icosahedral capsid made up of 162 hollow-centered capsomeres, a tegument surrounding the nucleocapsid, and a viral envelope derived from host membranes. Upon infection, the linear viral DNA is delivered to the nucleus, where it circularizes to form the viral episome. Depending on several factors, the viral cycle can proceed either to a productive infection or to a state of latency. In either case, the viral genetic information is maintained as extrachromosomal circular DNA. Interestingly, however, certain oncogenic herpesviruses such as Marek's disease virus and Epstein-Barr virus can be found integrated at low frequencies in the host's chromosomes. These findings have mostly been viewed as anecdotal and considered exceptions rather than properties of herpesviruses. In recent years, the consistent and rather frequent detection (in approximately 1% of the human population) of human herpesvirus 6 (HHV-6) viral DNA integrated into human chromosomes has spurred renewed interest in our understanding of how these viruses infect, replicate, and propagate themselves. In this review, we provide a historical perspective on chromosomal integration by herpesviruses and present the current state of knowledge on integration by HHV-6 with the possible clinical implications associated with viral integration.

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Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

Cited by 111 publications

References 184 publications

Ring 14 chromosome presenting as early‐onset isolated partial epilepsy

Ring 14 chromosome presenting as early‐onset isolated partial epilepsy

A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype

Herpesviruses and Chromosomal Integration

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