A ring-20 chromosome.

Atkins, Leonard; Miller, W L; M, Salam

doi:10.1136/jmg.9.3.377

Cited by 68 publications

(84 citation statements)

References 5 publications

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“…Age at onset of seizures varies from infancy to 14 years and is characteristically resistant to treatment (196,198). Although a variety of seizure types were initially reported in single cases, a report by Inoue et al (196) of six cases studied with video-EEG monitoring crystallized a characteristic seizure pattern of repeated nonconvulsive status.…”

Section: Epileptologymentioning

confidence: 99%

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

et al. 2002

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Summary:Purpose: We analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes. The expectation was that these regions could then be offered as targets in the search for epilepsy genes.Methods: The cytogenetic program of the Oxford Medical Database, and the PubMed database were used to identify chromosomal aberrations associated with seizures and/or EEG abnormalities. The literature on selected small anomalies thus identified was reviewed from a clinical and electroencephalographic viewpoint, to classify the seizures and syndromes according to the current International League Against Epilepsy (ILAE) classification.Results: There were 400 different chromosomal imbalances described with seizures or EEG abnormalities. Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, MillerDieker syndrome (del 17p13.3), Angelman syndrome (del 15q11-q13), the inversion duplication 15 syndrome, terminal deletions of chromosome 1q and 1p, and ring chromosomes 14 and 20. Many other segments had a weaker association with seizures. The poor quality of description of the epileptology in many reports thwarted an attempt to make precise karyotypephenotype correlations.Conclusions: We identified certain chromosomal regions where aberrations had an evident association with seizures, and these regions may be useful targets for gene hunters. New correlations with specific epilepsy syndromes were not revealed. Clinicians should continue to search for small chromosomal abnormalities associated with specific epilepsy syndromes that could provide important clues for finding epilepsy genes, and the epileptology should be rigorously characterized.

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Section: Epileptologymentioning

confidence: 99%

“…More than 30 cases of epilepsy associated with ring chromosome 20 have been reported (194)(195)(196)(197)(198)(199)(200)(201)(202)(203)(204)(205)(206)(207). The locus of fusion between the deleted long and short arms in ring chromosome 20 in 12 cases was one of p13q13, p13q13.3, or p13q13.33.…”

Section: Chromosome 20mentioning

confidence: 99%

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

et al. 2002

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“…Abnormalities of chromosome 20 which were identified by Q-and/or G-banding techniques have been reported in complete trisomy 20 (WahlstrSm et al, 1976;Pan et al, 1976), trisomy 20 mosaieism (Pallister et al, 1976), partial trisomy 20p resulting from a transloeation (Krmpotic et al, 1971;Franeke, 1972;Subrt and Bryehn~, 1974;Cohen et aL, 1975, Taylor et al, t976), ring 20 (Atkins et al, 1972;Uchida and Lin, 1972;Faed et al, 1972;Herva et al, 1977), and so far only two reports of a partial deletion 20p have been found (Loiodice et aL, 1970;Kalousek and Therien, 1976), Other structural changes of F group chromosome have been found in bone marrow cells in association with various haematologicat disorders, such as polycythemia vera (Reeves et aL, 1972).…”

Section: Ntroduc T!qnmentioning

confidence: 99%

A partial short arm deletion of chromosome 20∶46, XY, del(20)(p11)

et al. 1978

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SummaryWe have. id.entified a partial deletiotl of the 8hart arm of chromosome 20 in a .5-ye.0r~-o!d boy from pareu.t~ having norm~! phenotype and ka~otype, Hi~ major anomalies were mild .mer~tal retardation, eongenita! be.art di~sease., chest deformity, s~pina bifido, kyphosco!io~is, inguinal hernia, and preaurjcula.r fistula, Th# c.lin, ic0! findings were tompared with those of two patLe0t~ r~eport~d pre~viou_s!y o~ a partial deletion 20p.T~ activity of adeno.sine deamin.ase in the patJent'~ red blood r162 was within normal range, sugge~sting that the gene. locus for the enzyme, which has been pr~evioosly as_signr to ~hromosom~ 20, may not pre.sent on pl !--*pter of chromosome 20,

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“…All patients and controls had normal neurologic examinations. Brain magnetic resonance imaging (MRI) results were normal in all patients, and showed brain damage in four controls located in the following areas: right parietal (1), left parietal (1), left occipital (1), and parietooccipital, bilaterally (1).…”

Section: Resultsmentioning

confidence: 99%

“…In the years since the 1972 report from Atkins et al 1 electroencephalography (EEG) studies from patients with ring chromosome 20 epilepsy syndrome have been shown to have a recognizable pattern. EEG typically shows high voltage 3-6 Hz rhythms, with or without spike components, predominantly on frontal areas; during seizures, these rhythms are concomitant with frontal spikes and may spread over the scalp.…”

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confidence: 99%

Long‐termEEGin patients with the ring chromosome 20 epilepsy syndrome

et al. 2016

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SUMMARYThe recognizable electroencephalography (EEG) pattern of ring chromosome 20 epilepsy syndrome can be missing in patients with r(20) chromosomal anomaly, and may be found in patients with frontal lobe epilepsy of other origin. This study aims to search for more specific EEG signs by using long-term recordings and measuring the duration of paroxysmal anomalies. The series included 12 adult patients with r (20) anomaly, and 12 controls without any chromosomal aberration. We measured the duration of every paroxysmal burst and calculated the sum of their durations for each long-term EEG recording. We compared patients to controls using the Mann-Whitney U-test. Every patient showed long-lasting paroxysmal EEG bursts, up to 60 min; controls did not show any bursts longer than 60 s (p < 0.0001). The total duration of paroxysmal anomalies was significantly longer in patients (31-692 min) compared to controls (0-48 min) (p < 0.0001). Thus, long-term recordings enhance the contribution of EEG methods for characterizing the ring 20 chromosome epilepsy syndrome.

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A ring-20 chromosome.

Abstract: . Definitive evidence for the short arm of the Y chromosome associating with the X chromosome during meiosis in the human male. Nature, 226,959-961. Voorhees, J.

Cited by 68 publications

References 5 publications

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

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

A partial short arm deletion of chromosome 20∶46, XY, del(20)(p11)

Long‐termEEGin patients with the ring chromosome 20 epilepsy syndrome

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