Pretreatment seizure semiology in childhood absence epilepsy

Kessler, Sudha Kilaru; Shinnar, Shlomo; Cnaan, Avital; Dlugos, Dennis J.; Conry, Joan A.; Hirtz, Deborah; Hu, Fengming; Liu, Chunyan; Mizrahi, Eli M.; Moshé, Solomon L.; Clark, Peggy; Glauser, Tracy A.

doi:10.1212/wnl.0000000000004226

Cited by 29 publications

(34 citation statements)

References 14 publications

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“…Impairment of consciousness may occur either in isolation (simple absences), or in association with other ictal manifestations, such as automatisms, autonomic signs, and bilateral regional (around the mouth or the eyelids and forehead) or more widespread (involving the head or limbs), usually rhythmic, myoclonias (complex absences) (Penry et al, 1975;Panayiotopoulos et al, 1989;Capovilla et al, 2001). Although most clinicians tend to prioritize a temporal lobe epilepsy diagnosis in the face of accompanying automatisms, patients with typical absences not infrequently display ictal perioral, limb and speech automatisms (Penry and Dreifuss, 1969;Kessler et al, 2017). Usually, The child raises his right arm and rubs his face (the timing of the screenshot is marked on the trace with a blue arrow).…”

Section: Typical Absence Seizures (Ta)mentioning

confidence: 99%

How to diagnose and classify idiopathic (genetic) generalized epilepsies

Elmalı¹,

Auvin²,

Bast³

et al. 2020

Epileptic Disorders

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Idiopathic or genetic generalized epilepsies (IGE) constitute an electroclinically well‐defined group that accounts for almost one third of all people with epilepsy. They consist of four well‐established syndromes and some other rarer phenotypes. The main four IGEs are juvenile myoclonic epilepsy, childhood absence epilepsy, juvenile absence epilepsy and IGE with generalized tonic‐clonic seizures alone. There are three main seizure types in IGE, namely generalized tonic‐clonic seizures, typical absences and myoclonic seizures, occurring either alone or in any combination. Diagnosing IGEs requires a multidimensional approach. The diagnostic process begins with a thorough medical history with a specific focus on seizure types, age at onset, timing and triggers. Comorbidities and family history should be questioned comprehensively. The EEG can provide valuable information for the diagnosis, including specific IGE syndromes, and therefore contribute to their optimal pharmacological treatment and management.

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Section: Typical Absence Seizures (Ta)mentioning

confidence: 99%

How to diagnose and classify idiopathic (genetic) generalized epilepsies

Elmalı¹,

Auvin²,

Bast³

et al. 2020

Epileptic Disorders

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“…25 For this documentation, patients were investigated in standard conditions prospectively in a sitting position wearing only a shortsleeved shirt and shorts. More recently, Kessler et al 29 analyzed videos of electrographic absence seizures (n = 1.932) in 416 patients with CAE. In this study, a careful analysis of 528 absences revealed that in addition to myoclonic, atonic motor signs and automatisms also frequent tonic movements occur during absences.…”

Section: Key Pointsmentioning

confidence: 99%

“…25 The knowledge of the Gestalt of the complex motor program facilitates the clear allocation of even single-occurring elements or fragments. More recently, Kessler et al 29 analyzed videos of electrographic absence seizures (n = 1.932) in 416 patients with CAE. The authors described pause/stare as the most common semiological feature (99.3%) and confirmed the high percentage of motor automatisms (86.1%) and eye involvement (76.5%).…”

Section: Key Pointsmentioning

confidence: 99%

Generalized nonmotor (absence) seizures—What do absence, generalized, and nonmotor mean?

et al. 2018

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“…For experimental research, the priority would be to develop animal models that are insensitive to ethosuximide and valproate. Such a development may be guided by the findings in humans that (i) a more negative treatment outcome, independently of the initial treatment (with either ethosuximide, valproic acid or lamotrigine), occurs for absence seizure without face/limb motor automatisms ( Kessler et al , 2017 ); (ii) ethosuximide responders have decreased parietal cortex connectivity for ictal low frequency EEG components whereas non-responders have increased frontal cortex connectivity for high frequencies ( Tenney et al , 2018 ); and (iii) a CACNA1H polymorphism (P640L) is more commonly expressed in children non-responding to ethosuximide monotherapy ( Glauser et al , 2017 ).…”

Section: Introductionmentioning

confidence: 99%

Clinical and experimental insight into pathophysiology, comorbidity and therapy of absence seizures

Crunelli

Lőrincz

McCafferty

et al. 2020

Brain

131

159

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Absence seizures in children and teenagers are generally considered relatively benign because of their non-convulsive nature and the large incidence of remittance in early adulthood. Recent studies, however, show that 30% of children with absence seizures are pharmaco-resistant and 60% are affected by severe neuropsychiatric comorbid conditions, including impairments in attention, cognition, memory and mood. In particular, attention deficits can be detected before the epilepsy diagnosis, may persist even when seizures are pharmacologically controlled and are aggravated by valproic acid monotherapy. New functional MRI-magnetoencephalography and functional MRI-EEG studies provide conclusive evidence that changes in blood oxygenation level-dependent signal amplitude and frequency in children with absence seizures can be detected in specific cortical networks at least 1 min before the start of a seizure, spike-wave discharges are not generalized at seizure onset and abnormal cortical network states remain during interictal periods. From a neurobiological perspective, recent electrical recordings and imaging of large neuronal ensembles with single-cell resolution in non-anaesthetized models show that, in contrast to the predominant opinion, cortical mechanisms, rather than an exclusively thalamic rhythmogenesis, are key in driving seizure ictogenesis and determining spike-wave frequency. Though synchronous ictal firing characterizes cortical and thalamic activity at the population level, individual cortico-thalamic and thalamocortical neurons are sparsely recruited to successive seizures and consecutive paroxysmal cycles within a seizure. New evidence strengthens previous findings on the essential role for basal ganglia networks in absence seizures, in particular the ictal increase in firing of substantia nigra GABAergic neurons. Thus, a key feature of thalamic ictogenesis is the powerful increase in the inhibition of thalamocortical neurons that originates at least from two sources, substantia nigra and thalamic reticular nucleus. This undoubtedly provides a major contribution to the ictal decrease in total firing and the ictal increase of T-type calcium channel-mediated burst firing of thalamocortical neurons, though the latter is not essential for seizure expression. Moreover, in some children and animal models with absence seizures, the ictal increase in thalamic inhibition is enhanced by the loss-of-function of the astrocytic GABA transporter GAT-1 that does not necessarily derive from a mutation in its gene. Together, these novel clinical and experimental findings bring about paradigm-shifting views of our understanding of absence seizures and demand careful choice of initial monotherapy and continuous neuropsychiatric evaluation of affected children. These issues are discussed here to focus future clinical and experimental research and help to identify novel therapeutic targets for treating both absence seizures and their comorbidities.

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Pretreatment seizure semiology in childhood absence epilepsy

Cited by 29 publications

References 14 publications

How to diagnose and classify idiopathic (genetic) generalized epilepsies

How to diagnose and classify idiopathic (genetic) generalized epilepsies

Generalized nonmotor (absence) seizures—What do absence, generalized, and nonmotor mean?

Clinical and experimental insight into pathophysiology, comorbidity and therapy of absence seizures

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