Juvenile myoclonic epilepsy and sleep

Xu, Lin; Dan, G A; Liu, Yan-yan; Qiao, Dan-dan; Ye, Jing-yi; Xue, Rong

doi:10.1016/j.yebeh.2017.11.008

Cited by 34 publications

(26 citation statements)

References 56 publications

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“…indicating a high incidence of seizures. Progressive worsening of sleep dysfunction and increasing NREM IIS frequency in 100% of the mice are also common features of several developmental disorders associated with epilepsy (53)(54)(55)(56)(57)(58)(59).…”

Section: Discussionmentioning

confidence: 99%

Low-Dose Perampanel Rescues Cortical Gamma Dysregulation Associated With Parvalbumin Interneuron GluA2 Upregulation in Epileptic Syngap1+/− Mice

Sullivan

Ammanuel

Kipnis

et al. 2020

Biological Psychiatry

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BACKGROUND: Loss-of-function SYNGAP1 mutations cause a neurodevelopmental disorder characterized by intellectual disability and epilepsy. SYNGAP1 is a Ras GTPase-activating protein that underlies the formation and experience-dependent regulation of postsynaptic densities. The mechanisms that contribute to this proposed monogenic cause of intellectual disability and epilepsy remain unresolved. METHODS: We established the phenotype of the epileptogenesis in a Syngap1 1/2 mouse model using 24-hour video electroencephalography (vEEG)/electromyography recordings at advancing ages. We administered an acute low dose of perampanel, a Food and Drug Administration-approved AMPA receptor (AMPAR) antagonist, during a follow-on 24-hour vEEG to investigate the role of AMPARs in Syngap1 haploinsufficiency. Immunohistochemistry was performed to determine the region-and location-specific differences in the expression of the GluA2 AMPAR subunit. RESULTS: A progressive worsening of the epilepsy with emergence of multiple seizure phenotypes, interictal spike frequency, sleep dysfunction, and hyperactivity was identified in Syngap1 1/2 mice. Interictal spikes emerged predominantly during non-rapid eye movement sleep in 24-hour vEEG of Syngap1 1/2 mice. Myoclonic seizures occurred at behavioral-state transitions both in Syngap1 1/2 mice and during an overnight EEG from a child with SYNGAP1 haploinsufficiency. In Syngap1 1/2 mice, EEG spectral power analyses identified a significant loss of gamma power modulation during behavioral-state transitions. A significant region-specific increase of GluA2 AMPAR subunit expression in the somas of parvalbumin-positive interneurons was identified. CONCLUSIONS: Acute dosing with perampanel significantly rescued behavioral state-dependent cortical gamma homeostasis, identifying a novel mechanism implicating Ca 21-impermeable AMPARs on parvalbumin-positive interneurons underlying circuit dysfunction in SYNGAP1 haploinsufficiency.

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Section: Discussionmentioning

confidence: 99%

Low-Dose Perampanel Rescues Cortical Gamma Dysregulation Associated With Parvalbumin Interneuron GluA2 Upregulation in Epileptic Syngap1+/− Mice

Sullivan

Ammanuel

Kipnis

et al. 2020

Biological Psychiatry

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“…Individual baboons tended to experience seizures either in wakefulness or sleep, but three experienced GTCS upon awakening, within minutes of the lights being turned on, and all but one baboon demonstrated a circadian pattern of the GTCS. These seizure patterns are typically reported in people with IGEs and, in particular, for JME 18,19 …”

Section: Discussionmentioning

confidence: 66%

“…The epileptic baboons also demonstrated circadian variability in seizure occurrence. Similar to people with JME, 18,19 baboons demonstrate a morning predominance of seizures, both before and after lights were turned on, and in some of the baboons, seizures were closely associated with awakening once the lights were turned on.…”

Section: Discussionmentioning

confidence: 85%

Semiology of spontaneous generalized tonic‐clonic seizures in the epileptic baboon

2020

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Objective:The epileptic baboon provides an animal model for juvenile myoclonic epilepsy (JME), demonstrating spontaneous generalized tonic-clonic seizures (GTCS) in addition to generalized myoclonic, absence and multifocal seizures.While photoconvulsive responses have been described in this model, spontaneous GTCS have not been characterized. Methods: In this study, we characterized 46 seizures in 7 epileptic baboons (5 females, 12 ± 3 years old) by video recording. While housed in single cages, the baboons were monitored for a median of 2 (range 1-10) weeks, with high-resolution, infrared-capable camera systems. Each GTCS was evaluated for evidence of preconvulsive ictal symptoms, focal convulsive behaviors, duration of the preconvulsive and convulsive periods, postictal immobility, and recovery of an upright posture. The circadian pattern of GTCS was also for each baboon. Results: More than half of GTCS occurred in sleep, beginning from an upright position in all but one tethered baboon. Focal semiological findings were noted in 19 (41%) GTCS, and these included preconvulsive focal ictal motor behaviors as well as lateralized motor activity during the convulsions. The convulsive portion lasted 47 ± 10 seconds, whereas the entire seizure lasted 54 ± 21 seconds. Postictally, the baboons remained immobile for a median latency of 40 (range 14-347) seconds, recovering an upright posture after 173 (range 71-1980) seconds. GTCS demonstrated circadian patterns in all but one baboon, with 34 (74%) all seizures occurring between 1-9 am. Significance: GTCS in the baboon revealed intersubject variability, but semiology remained stereotyped in a given baboon. Similar to GTCS in people with JME, focal symptoms were also observed in epileptic baboons. The postictal recovery period, characterized by postictal immobility and myoclonus as well as time to recumbency, also varied among baboons. K E Y W O R D Sanimals models, baboon, generalized tonic-clonic seizures, Idiopathic Generalized Epilepsy, SUDEP 214 | SZABO et Al.

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“…Juvenile myoclonic epilepsy (JME) is one of the most common types of idiopathic generalized epilepsy. The myoclonic jerks usually occur on in the morning shortly after awaking, and generalized tonic-clonic seizures can occur independently or precede the myoclonus (61). The patients may be exceedingly sensitive to sleep deprivation.…”

Section: Sleep-related Epilepsymentioning

confidence: 99%

Epilepsy and Its Interaction With Sleep and Circadian Rhythm

et al. 2020

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Growing evidence shows the bidirectional interactions between sleep, circadian rhythm, and epilepsy. Comprehending how these interact with each other may help to advance our understanding of the pathophysiology of epilepsy and develop new treatment strategies to improve seizure control by reducing the medication side effects and the risks associated with seizures. In this review, we present the overview of different temporal patterns of interictal epileptiform discharges and epileptic seizures over a period of 24 consecutive hours. Furthermore, we discuss the underlying mechanism of the core-clock gene in periodic seizure occurrences. Finally, we outline the role of circadian patterns of seizures on seizure forecasting models and its implication for chronotherapy in epilepsy.

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Juvenile myoclonic epilepsy and sleep

Cited by 34 publications

References 56 publications

Low-Dose Perampanel Rescues Cortical Gamma Dysregulation Associated With Parvalbumin Interneuron GluA2 Upregulation in Epileptic Syngap1+/− Mice

Low-Dose Perampanel Rescues Cortical Gamma Dysregulation Associated With Parvalbumin Interneuron GluA2 Upregulation in Epileptic Syngap1+/− Mice

Semiology of spontaneous generalized tonic‐clonic seizures in the epileptic baboon

Epilepsy and Its Interaction With Sleep and Circadian Rhythm

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