Centrencephalic Myoclonic-Astatic Petit Mal<sup>1</sup>– Clinical and genetic investigations

Doose, H; Gerken, H; R, Leonhardt; Völzke, E; Völz, Christa

doi:10.1055/s-0028-1091841

Cited by 224 publications

(92 citation statements)

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“…Uključuju epilepsiju s mioklono-atoničkim napadajima koju je izvorno opisao Doose i sur. te Dravet sindrom kad najteži fenotip GEFK+ spektra 25,26 . Poznato je nekoliko gena čija mutacija uzrokuje GEFK+.…”

Section: Genetske Epilepsije S Febrilnim Konvulzijama Plus (Gefk+)unclassified

Fever-induced seizures: where are we today?

2016

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Sažetak. Febrilne konvulzije najčešći su konvulzivni poremećaj. Obično predstavljaju samolimitirajući poremećaj bez dugoročnih posljedica, no mogu predstavljati početak epilepsije, stoga je rastući broj epilepsijskih sindroma povezanih s febrilnim konvulzijama. Ovi sindromi prezentiraju se od samo ograničavajućih i medikamentima kontroliranih entiteta do teških epileptičkih encefalopatija. Razumijevanje spektra poremećaja povezanih s febrilnim konvulzijama pridonosi dijagnozi koja zauzvrat nudi informacije o terapijskoj paradigmi, prognozi i genetičkom savjetovanju.Ključne riječi: epileptičke encefalopatije; febrilne konvulzije Abstract. Febrile seizures are the most common seizure disorder. They usually represent only a limiting disorder with no long-term consequences. However, it can represent the beginning of epilepsy, therefore a growing number of epileptic syndromes associated with febrile seizures. These syndromes present from self-limiting and medication controlled entities to severe epileptic encephalopathy. Understanding the spectrum of disorders associated with febrile seizures contributes to diagnosis, which in turn provides information on the therapeutic paradigm, prognosis and genetic counseling.

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Section: Genetske Epilepsije S Febrilnim Konvulzijama Plus (Gefk+)unclassified

Fever-induced seizures: where are we today?

2016

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“…Gastaut y col. publican un extenso trabajo en 1966 10 , además de otras aportaciones posteriores. Es interessante la discusión entre Gibbs 12 y Gastaut 9 en 1971, así como los trabajos de Janz 17 y de Doose y col. 7 al referirse a ciertos tipos de crisis en evidente relación con el síndrome que nos ocupa.…”

Section: Corresponde a Lennox Y Davis En 1950unclassified

Síndrome de Lennox-Gastaut: aspectos clínico-electroencefalograficos de su diagnostico

Oller-Daurella

1972

Arq. Neuro-Psiquiatr.

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La historia del síndrome de Lennox-Gastaut debe tomar su punto de partida en los primeros tiempos de la EEG clínica, y específicamente en los trabajos iniciales de los esposos Gibbs y de Lennox en el año 1939 13 en que diferencian dos tipos de punta-onda: la punta-onda rápida a 3 c.s. de caracter rítmico, de distribuición bilateral, síncrona, frecuentemente crítica y fácil de provocar mediante la hiperpnea; la punta-onda lenta alrededor de 2 c.s. mucho menos sistematizada en su distribuición, de caracter rara vez rítmico, que no suele acompañarse de manifestaciónes clínicas y cuya sensibilidad a los cambios de CO 2 y de glucosa en sangre es mucho menor. Corresponde a Lennox y Davis, en 195019 , el mérito de haber establecido correlaciones entre la punta-onda lenta y las manifestaciones clínicas. Lennox señala, en 1960 18 que los enfermos con punta-onda lenta no tienen una historia familiar de epilepsia, las crisis se inician en edades tempranas de la vida, suelen presentar signos evidentes de lesión cerebral y son oligo¬ frénicos más o menos importantes. También Lennox señala que el EEG muestra una actividad de fondo enlentecida y que el pronostico de estos casos es francamente malo, tanto por lo que respecta al futuro intelectual de los enfermos, como por la resistencia de las crisis a las medicaciones conocidas.En las décadas de los años 40 y 50 y en la primera mitad de los 60, si bien la punta-onda rápida y su expressión clínica, la ausencia típica, es objeto de numerosos trabajos, la punta-onda lenta queda en el olvido de la Relatório presentado al V Congresso Brasileño de Neurologia (São Paulo 12-15 de julho, 1972).

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“…In view of the extreme heterogeneity of the human epilepsies (Doose et al, 1970;Lafora and Gluck, 1911;Pedersen et al, 1982;Penry et al, 1975;Unverricht, 1981) and of the great variety of animal models (Calvin, 1980;Krnjevic et al, 1971;Pedley et al, 1976;Zuckermann and Glaser, 1968) it is unlikely that a single mechanism can account for epileptogenesis either at the cellular or molecular level, and it is likely that many of the mechanisms elicited in kindling will not apply to other models in animals or to human epilepsies. However, those same limitations and the differences which set kindling apart from most other models ofepilespy make it a particularly useful tool to study one end of the spectrum of cellular or molecular abnormalities which can lead to epilepsy.…”

Section: Introductionmentioning

confidence: 97%

Cholinergic kindling: What has it taught us about epilepsy?

Wasterlain

Farber

Fairchild

1985

J. Neural Transmission

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We reviewed recent evidence that chemical kindling of epileptic seizures can be induced by injection into the amygdala of multiple cholinergic muscarinic agonists, and blocked by multiple muscarinic antagonists. The stereospecific induction of kindling by (+) but not by (-) acetyl-beta-methylcholine shows that some types of repeated synaptic activation can produce epilepsy, in the absence of specific brain damage. The failure of bicuculline (but not of carbachol) to produce kindling with amygdaloid injections, and its ability to produce a limited seizure spread in neocortex, suggest that repetitive seizure activity alone is not sufficient to produce kindling. A review of some recent neurochemical changes in the synaptic apparatus associated with some types of kindling suggests potential areas for future investigation, but no cause-and-effect relationship between neurochemical and behavioral changes can be inferred so far.

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Centrencephalic Myoclonic-Astatic Petit Mal¹– Clinical and genetic investigations

Cited by 224 publications

References 0 publications

Fever-induced seizures: where are we today?

Fever-induced seizures: where are we today?

Síndrome de Lennox-Gastaut: aspectos clínico-electroencefalograficos de su diagnostico

Cholinergic kindling: What has it taught us about epilepsy?

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Centrencephalic Myoclonic-Astatic Petit Mal1– Clinical and genetic investigations

Cited by 224 publications

References 0 publications

Fever-induced seizures: where are we today?

Fever-induced seizures: where are we today?

Síndrome de Lennox-Gastaut: aspectos clínico-electroencefalograficos de su diagnostico

Cholinergic kindling: What has it taught us about epilepsy?

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Centrencephalic Myoclonic-Astatic Petit Mal¹– Clinical and genetic investigations