Epilepsy in Angelman Syndrome Associated with Chromosome 15q Deletion

Matsumoto, Akiko; Kumagai, Toshiyuki; Miura, Kiyokuni; Miyazaki, Shuji; Hayakawa, Chiemi; Yamanaka, Tsutomu

doi:10.1111/j.1528-1157.1992.tb01763.x

Cited by 92 publications

(91 citation statements)

References 24 publications

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“…Infantile spasms have been described, but the more common presentation is with myoclonic seizures, atonic seizures, atypical absences, and febrile and afebrile GTCSs. Episodes of nonconvulsive status epilepticus and partial seizures also are reported (158,(162)(163)(164). Guerrini et al (148) emphasized that the marionette-like gait and hand-flapping may be due to rhythmic, fast bursting cortical myoclonus.…”

Section: R Singh Et Al 132mentioning

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: R Singh Et Al 132mentioning

confidence: 99%

“…Seizures occur in 80-90% of cases (158,(162)(163)(164). Onset is usually before age 3 years, and seizures are often refractory.…”

Section: R Singh Et Al 132mentioning

confidence: 99%

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

et al. 2002

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“…No nosso estudo, o vídeo-EEG dia foi vital para o diagnóstico de epilepsia nestas crianças que apresentam um risco elevado de EME não convulsivo, difícil de ser detectado, devido ao contato pobre com o meio [22][23] . Neste ponto, o reconhecimento do evento é fundamental para a terapêutica apropriada.…”

Section: Discussionunclassified

O vídeo-EEG dia no diagnóstico de eventos paroxísticos na infância

Freitas¹,

Fiore²,

Gronich³

et al. 2003

J. Pediatr. (Rio J.)

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ResumoObjetivo: este estudo tem como objetivo investigar o valor do vídeo-EEG dia numa população pediátrica, com queixas clínicas diversas, verificando os benefícios e as limitações deste método.Casuística e métodos: um protocolo prospectivo, desenvolvido na Universidade de São Paulo, analisou 38 pacientes consecutivos (quatro meses a 17 anos; média 6,9 anos). Todos os pacientes foram encaminhados para elucidação do seu quadro clínico. Estes foram classificados, segundo sua queixa clínica principal, em: dúvidas sobre a classificação das crises/ síndromes epilépticas em 22 pacientes (grupo I); diagnóstico diferencial entre eventos epilépticos e não epilépticos em 8 (grupo II); e diagnóstico diferencial entre declínio cognitivo e estado de mal epiléptico (EME) não convulsivo em 8 pacientes (grupo III).Resultados: episódios clínicos foram registrados em 36 pacientes (94,7%). No grupo I, as crises epilépticas foram reclassificadas em 11/22 (50%) pacientes e confirmadas em oito (36,4%). Deste grupo, um paciente apresentou distúrbio do sono, e dois não apresentaram eventos clínicos durante a monitorização. A classificação sindrômica foi modificada em nove pacientes (40,9%). No grupo II, quatro pacientes (50%) apresentaram eventos epilépticos. A deterioração cognitiva estava associada com EME em cinco crianças (62,5%) do grupo III. Mudanças na conduta terapêutica e diagnós-tica, como conseqüência da monitorização, ocorreram em 21/38 (55,3%) pacientes.Conclusão: em nossa série, o vídeo-EEG dia estabeleceu o diagnóstico na maioria dos pacientes, relacionando os dados clínicos com os eletrencefalográficos. Este procedimento foi bem tolerado pelas crianças, incluindo lactentes e aquelas com doenças psiquiátri-cas.J Pediatr (Rio J) 2003;79(3):259-64: epilepsia, monitorização, classificação. AbstractObjective: the objective of this study was to investigate the value of short-term video-EEG monitoring in a pediatric population with distinct clinical complaints in order to verify the benefits and limitations of this procedure.Patients and methods: a prospective protocol, developed in the University of São Paulo, analyzed 38 consecutive patients (age ranging from 4 months to 17 years; mean 6.9 years). All patients were referred in order to establish the diagnosis. The patients were divided in the following groups according to the main clinical complaint: doubts about seizure/syndromic classification (Group I, n = 22); differential diagnosis with non-epileptic events (Group II, n = 8) and differential diagnosis between cognitive decline and status epilepticus (Group III, n = 8).Results: clinical episodes were observed in 36 patients (94.7%). In group I, seizures were reclassified in 11/22 (50%) patients and confirmed in eight (36.4%). One patient presented a sleep disorder and two did not present clinical events during monitoring. Syndromic classification was modified in nine (40.9%). In group II, four patients (50%) presented epileptic seizures; two had movement disorders and two, non-epileptic events. The cognitive deteriorati...

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“…In a high proportion of patients, the onset of epilepsy precedes the diagnosis of Angelman syndrome (Valente et al, 2006). Seizure types may evolve with age (Matsumoto et al, 1992;Uemura et al, 2005). As in other developmental conditions with epilepsy, the seizure disorder often improves in late childhood.…”

Section: Natural History Of the Seizure Disordermentioning

confidence: 99%

“…They include myoclonic absences, myoclonic, atonic, tonic and tonic-clonic seizures (Cersósimo et al, 2003;Elia et al, 1998;Galván-Manso et al, 2002;Laan et al, 1997;Matsumoto et al, 1992;Minassian et al, 1998;Viani et al, 1995). Atypical absence and myoclonic seizures have been particularly emphasized.…”

Section: Seizure Typesmentioning

confidence: 99%