The long‐term course of primary generalized epilepsy with persisting absences

Gastaut, H; Mariani, Eloisa; Puig, Javier Salas

doi:10.1212/wnl.36.8.1021

Cited by 39 publications

(28 citation statements)

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“…A similar rate was reported by Loiseau et al [ 13] in a prospective study with follow-up rang ing from 5 to 25 years. Higher rates have been noted by other authors [9,[19][20][21], Differences in response rates depend mainly on (1) the duration of follow-up of pa tients: GTCS can be a late occurrence; (2) patient recruit ment: specialized centers tend to see more serious cases.…”

Section: Prognosis Of Absence Epilepsiesmentioning

confidence: 77%

Prognostic Factors for Childhood and Juvenile Absence Epilepsies

Bartolomei¹,

Roger²,

Bureau³

et al. 1997

Eur Neurol

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To assess prognostic factors for absence epilepsy (AE), we analyzed data from 80 patients treated for childhood AE (CAE; n = 53) or juvenile AE (JAE; n = 27) in our epilepsy clinic between 1985 and 1992. All patients were classified according to the International Classification of Epileptic Syndromes which was proposed by the International League against Epilepsy in 1989. Patients were separated into two groups based on the course of disease under adequate treatment: Complete response group (CRG): disappearance of absence seizures (AS) or generalized tonic-clonic seizures (GTCS). Poor response group (PRG): persistence of AS and/or GTCS. Approximately 40% of both CAE and JAE patients had poor response. One parameter was associated with poor prognosis in CAE patients, the presence of polyspikes or polyspikes and waves during sleep. No statistical correlation was made for JAE patients. GTCS were frequent in JAE and GTCS occurrence in CAE patients was associated significantly with age at onset after 8 (p < 0.05). The fact that social and educational performance was poorer in the PRG of both types of AE underlines the importance of therapeutic response in patient rehabilitation.

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Section: Prognosis Of Absence Epilepsiesmentioning

confidence: 77%

Prognostic Factors for Childhood and Juvenile Absence Epilepsies

Bartolomei¹,

Roger²,

Bureau³

et al. 1997

Eur Neurol

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“…Gastaut et al (52) reported psychomotor slowing in 36% of adults with IGE and persisting absences, almost all of them women, which did not affect job performance. Michelucci et al (44) reported that frequent absences and repeated TAS in adults seem to predispose to mental slowing.…”

Section: Discussionmentioning

confidence: 94%

Typical Absence Status in Adults: Diagnostic and Syndromic Considerations

et al. 1998

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Summary: Purpose: To study the electroclinical features of typical absence status (TAS) in adults with syndromes of idiopathic generalized epilepsies (IGEs).Methods: Twenty-one patients with one or more spells of TAS were identified among 136 consecutive adult patients with IGEs. All patients with TAS had comprehensive electroclinical investigations and EEG or video-EEG recorded absences.Results: TAS occurred in 24.4% of 86 patients who had IGEs with typical absences alone or in combination with other seizures presisting in adult life. The prevalence of TAS appeared to be syndrome related, ranging from as high as 57.1% in perioral myoclonia with absences and 46.2% in "phantom" absences with GTCS to as low as 6.7% in juvenile myoclonic epilepsy. A varying degree of impairment of cognition was the cardinal clinical symptom shared in all TAS, but corresponding syndromes of IGE were often betrayed by other symptoms such as eyelid or perioral myoclonia. In phantom absences with GTCS, TAS was more numerous (p S 0.05) and more frequently the first overt seizure type (p = 0.006) than in any other IGE. Only in the syndrome of eyelid myoclonia with absences, TAS was always situation related, mainly as a result of antiepileptic drug discontinuation.Conclusions: The clinical EEG semiology and prevalence of TAS appear to be syndrome related with the highest prevalence in the syndromes of perioral myoclonia with absences and phantom absences with GTCS (p = 0.0024). Key Words:Typical absence status-Nonconvulsive status epilepticusIdiopathic generalized epilepsies-Epileptic syndromesAdults.Absence status is the commone3t form of nonconvulsive status epilepticus, ranging from 53 to 94% in different studies (1-5). It is manifested with prolonged confusional states of varying severity and EEG continuous or repetitive generalized discharges of spikes, multiple lowing. classification of absence status:4. Absence status epilepticus occumng in other epileptic syndromes: progressive myoclonic epilepsies, electrical status epilepticus during slow sleep, Landau-Kleffner syndrome, metabolic or degenerative generalized epilepsies, electrographic gtatus. spikes, and slow waves. Shorvon (6,7) proposed the folTypical (idiopathic) absence status epilepticus occurring in the syndromes of idiopathic generalized epilepsies (IGEs). The EEG discharges are of >2.5 Hz. Atypical (cryptogenic and symptomatic) absence status epilepticus, mainly found in epilepsies, such as the Lennon-Gastaut syndrome. The EEG discharges are slow and <2.5 Hz. De novo absence status epilepticus of late onset, arising de novo in adults without a history of previous epileptic seizures, mainly as the result of drug discontinuation.Although it is well documented in the literature (1-16), absence status is frequently overlooked. It is erroneously considered as complex partial status or other conditions unrelated to epileptic seizures, such as dementia, psychogenic or other behavior disorder (1,10, 12).Furthermore, absence status is usually studied in a unitary fashion without ...

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“…Remission of absence epilepsy at puberty is a common clinical observation, although persistence into adulthood may occur (29). To assess the possible age dependence of seizure remission in the GABA A ␥2(R43Q) mouse, we performed video-EEG analysis across a range of ages.…”

Section: Development Of Absence Epilepsy In the Gabaamentioning

confidence: 99%

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy

Tan

Reid

Single³

et al. 2007

Proc. Natl. Acad. Sci. U.S.A.

201

230

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Mutations in the GABAA receptor ␥2 subunit are associated with childhood absence epilepsy and febrile seizures. To understand better the molecular basis of absence epilepsy in man, we developed a mouse model harboring a ␥2 subunit point mutation (R43Q) found in a large Australian family. Mice heterozygous for the mutation demonstrated behavioral arrest associated with 6-to 7-Hz spike-and-wave discharges, which are blocked by ethosuximide, a first-line treatment for absence epilepsy in man. Seizures in the mouse showed an abrupt onset at around age 20 days corresponding to the childhood nature of this disease. Reduced cell surface expression of ␥2(R43Q) was seen in heterozygous mice in the absence of any change in ␣1 subunit surface expression, ruling out a dominant-negative effect. GABA Amediated synaptic currents recorded from cortical pyramidal neurons revealed a small but significant reduction that was not seen in the reticular or ventrobasal thalamic nuclei. We hypothesize that a subtle reduction in cortical inhibition underlies childhood absence epilepsy seen in humans harboring the R43Q mutation.GABAA receptor ͉ genetics ͉ electroencephalogram ͉ trafficking ͉ synapse G ABA A receptors in the adult brain are important for inhibiting the activity of neurons in which they reside. Dysfunction of these receptors caused by familial mutations can give rise to febrile seizures (FS) and a variety of generalized epilepsy phenotypes (1-3). To date, five mutations have been reported in the GABA A ␥2 subunit gene with an array of seizure types seen in patients (1, 4-7). Childhood absence epilepsy (CAE) and FS were the main phenotypes in a large Australian family with an arginine to glutamine mutation at position 43 (R43Q) in the GABA A ␥2 subunit gene (1,8).Understanding how the GABA A ␥2(R43Q) mutation causes epilepsy is difficult. GABA A receptors themselves serve several roles. They regulate moment-to-moment brain function (9), play an important role in brain development (10), and have key roles in neuronal plasticity (11, 12) and response to brain injury (13-15). Epilepsy itself is a complex phenomenon involving the interaction of multiple cell types in networks within and between different brain regions that are likely to be influenced by GABA A receptor dysfunction caused by the R43Q mutation. Furthermore, in vitro analyses of the consequences of this mutation have shown inconsistent findings with a range of deficits in receptor pharmacology, trafficking, kinetics, or assembly (16-23) potentially implicated in disease pathogenesis.Clearly, the complex nature of epileptogenesis demands in vivo investigation. Genetic epilepsies provide a framework on which to investigate the consequences of causative mutations at a range of organizational levels within the brain, creating a chain of understanding from molecules to behavior. Linking this chain is impossible in humans because of the highly invasive methodology required and is severely limited in heterologous expression systems that lack necessary complexity. Mice mod...

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The long‐term course of primary generalized epilepsy with persisting absences

Cited by 39 publications

References 0 publications

Prognostic Factors for Childhood and Juvenile Absence Epilepsies

Prognostic Factors for Childhood and Juvenile Absence Epilepsies

Typical Absence Status in Adults: Diagnostic and Syndromic Considerations

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy

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