Nocturnal frontal lobe epilepsy: A clinical and polygraphic overview of 100 consecutive cases

Provini, Federica; Plazzi, Giuseppe; Tinuper, Paolo; Vandi, Stefano; Lugaresi, E; Montagna, Pasquale

doi:10.1093/brain/122.6.1017

Cited by 473 publications

(567 citation statements)

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“…As described for a variety of nocturnal epilepsy syndromes, ADNFLE seizures initiate exclusively or predominantly during NREM sleep (23). Moreover, in patients with partial epilepsies, NREM sleep (notably stage 2) potentiates, whereas REM sleep inhibits, interictal epileptiform discharges and propagation of focal seizures (24).…”

Section: Discussionmentioning

confidence: 98%

Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy

Klaassen

Glykys

Maguire

et al. 2006

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

185

205

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Selected mutations in the human ␣4 or ␤2 neuronal nicotinic acetylcholine receptor subunit genes cosegregate with a partial epilepsy syndrome known as autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). To examine possible mechanisms underlying this inherited epilepsy, we engineered two ADNFLE mutations (Chrna4 S252F and Chrna4 ؉L264 ) in mice. Heterozygous ADNFLE mutant mice show persistent, abnormal cortical electroencephalograms with prominent delta and theta frequencies, exhibit frequent spontaneous seizures, and show an increased sensitivity to the proconvulsant action of nicotine. Relative to WT, electrophysiological recordings from ADNFLE mouse layer II͞III cortical pyramidal cells reveal a >20-fold increase in nicotineevoked inhibitory postsynaptic currents with no effect on excitatory postsynaptic currents. i.p. injection of a subthreshold dose of picrotoxin, a use-dependent ␥-aminobutyric acid receptor antagonist, reduces cortical electroencephalogram delta power and transiently inhibits spontaneous seizure activity in ADNFLE mutant mice. Our studies suggest that the mechanism underlying ADNFLE seizures may involve inhibitory synchronization of cortical networks via activation of mutant ␣4-containing nicotinic acetylcholine receptors located on the presynaptic terminals and somatodendritic compartments of cortical GABAergic interneurons.cortex ͉ GABAegic interneuron ͉ nicotinic acetylcholine receptor E pilepsy is a common neurological disorder affecting Ϸ1% of the population worldwide. Over the past decade, several idiopathic epilepsies have been identified that show single-gene inheritance. Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) was the first idiopathic epilepsy for which specific mutations were described (1). Segregation and subsequent linkage analyses of ADNFLE families led to the assignment of candidate genetic loci and ultimately to the identification of specific mutations. Two of the three loci associated with this partial epilepsy (ENFL1, 20q13.3 and ENFL3, 1p21) map to neuronal nicotinic acetylcholine receptor (nAChR) subunit genes ␣4 and ␤2 (CHRNB2), respectively. A candidate gene for the third locus (ENFL2, 15q24) has not been identified. Considerable clinical and genetic data now provide a strong link between the ADNFLE syndrome and six mutations located within the pore-forming, second transmembrane domain of the ␣4 (S252F, ϩL264, S256L, T265I) and ␤2 (V287L, V287M) nAChR subunits (2), as well as a single mutation located in the third transmembrane domain of the ␤2 subunit (I312M) (3).In most patients with ADNFLE, seizure onset occurs during adolescence with symptoms persisting into adulthood. Affected individuals typically present without adverse neurological symptoms other than seizures, although several reports describe ADNFLE patients with a concomitant history of psychiatric problems (4, 5), cognitive deficits (3), or mental retardation (6). Clinical features of ADNFLE include clusters of brief seizures that initiate during non-rapid eye movement (NREM) sle...

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Section: Discussionmentioning

confidence: 98%

Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy

Klaassen

Glykys

Maguire

et al. 2006

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

185

205

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“…Daytime interictal EEG shows epileptiform abnormalities in up to one-third of cases; this increases to 50 % of nocturnal EEGs. 35 Ictal EEG is often unhelpful or there may be only subtle features such as electrodecrement or rhythmic frontal slow. 35 Tachycardia is common during the seizures.…”

Section: Nocturnal Frontal Lobe Epilepsy and Non-rapid Eye Movement Pmentioning

confidence: 99%

“…35 Ictal EEG is often unhelpful or there may be only subtle features such as electrodecrement or rhythmic frontal slow. 35 Tachycardia is common during the seizures. 35 Although it can be difficult to differentiate epileptic arousals from If woken from these, people will often recall dream mentation that usually lacks a narrative structure and consists of escaping from something or someone.…”

Section: Nocturnal Frontal Lobe Epilepsy and Non-rapid Eye Movement Pmentioning

confidence: 99%

“…35 Tachycardia is common during the seizures. 35 Although it can be difficult to differentiate epileptic arousals from If woken from these, people will often recall dream mentation that usually lacks a narrative structure and consists of escaping from something or someone. Confusional arousals consist of episodes of confusion arising from sleep, about which the person is usually amnesic.…”

Section: Nocturnal Frontal Lobe Epilepsy and Non-rapid Eye Movement Pmentioning

confidence: 99%

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Epilepsy and Sleep Disorders

Walker¹,

Eriksson²

2011

US Neurology

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Throughout the ages, sleep has been considered akin to death; indeed, Homer referred to sleep as the 'brother of death'. However, the advent of electroecephalography (EEG) has expelled this misconception and sleep is now recognized as consisting of active brain states during which many biologic processes occur, such as synaptic plasticity and memory consolidation.1 Sleep can be broadly divided into rapid eye movement (REM) sleep and non-REM (NREM) sleep. These sleep states cycle over 90 minutes throughout the night. NREM can be subdivided into light (stages I/II) and deep (stages III/IV) sleep (see Figure 1). Temporal Association of Epilepsy with SleepPerhaps the best established relationship between epilepsy syndromes and sleep is in idiopathic generalized epilepsy syndromes, in which seizures occur shortly after waking. This is especially evident in the myoclonic jerks and tonic-clonic seizures in juvenile myoclonic epilepsy. 3 It is also striking that, in some people, seizures can occur exclusively at night, an observation mentioned in ancient texts. Indeed, Aristotle stated that "the beginning of this malady (epilepsy) takes place with many during sleep, and their subsequent habitual seizures occur in sleep, not in waking hours". 4 Later studies from the 19th and early 20th centuries determined that 20 % of patients with epilepsy have nocturnal seizures only. 5,6 Importantly, the occurrence of seizures predominantly during sleep is a characteristic of specific epilepsy syndromes. In particular, nocturnal seizures are typical of frontal lobe epilepsy, in which seizures usually cluster and can occur many times in a night. 7 Nocturnal seizures occur throughout all stages of NREM sleep and are distributed proportionately, so that they occur more frequently during light stages rather than deep stages (see Figure 2).Similarly, seizures in benign focal epilepsy with centrotemporal spikes (BECTS) show a predilection for sleep or drowsiness. 10 Although temporal lobe epilepsy does not show this diurnal variation, if temporal lobe seizures occur during the night, they are more likely to be secondary generalized. 7,9 Certain epileptic encephalopathies also show marked diurnal variation in seizure manifestation and electrographic activity. This is a particular feature of electrical status epilepticus during sleep (ESES), which is characterized by spike and wave discharges in 85-100% of NREM Table 1). 34 Nocturnal Frontal Lobe Epilepsy and Non-rapid Eye Movement Parasomnia Diagnosis and Differential DiagnosisNocturnal frontal lobe seizures can manifest as paroxysmal arousals, which consist of brief, sudden eye opening, head raising or sitting up in bed, a frightened expression and, sometimes, vocalization; or nocturnal paroxysmal dystonia, which involves dystonic posturing and hypermotor (complex motor) phenomena, and episodic nocturnal wanderings, which are longer in duration (one to three minutes), with associated stereotyped Figure 3). 41 Nevertheless, even with access to good-quality video-EEG telemetry, the d...

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“…Although inheritance has been suggested as a possible etiology of idiopathic epilepsy in dogs [6,9,16] and humans [1,17], the pathophysiology of this syndrome is not fully understood. Electroencephalographic (EEG) epileptic discharges may result from a mismatch between excitatory (e.g., aspartate and glutamate) and inhibitory (e.g., γ-aminobutyrate) amino acid systems [18].…”

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confidence: 99%

Changes in Extracellular Neurotransmitters in the Cerebrum of Familial Idiopathic Epileptic Shetland Sheepdogs Using an Intracerebral Microdialysis Technique and Immunohistochemical Study for Glutamate Metabolism

Morita

Takahashi

Takeuchi

et al. 2005

The Journal of Veterinary Medical Science

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ABSTRACT. Intracerebral microdialysis combined with electroencephalographic recordings was performed on 4 dogs of a familial idiopathic epileptic Shetland sheepdog colony to identify the kinds of neurotransmitters responsible for seizure activity. Immunohistochemistry using glutamate (Glu), glutamate transporter (GLT-1 and GLAST), and glutamine synthetase (GS) antibodies was also carried out on the cerebrum of four familial dogs that died of status epilepticus (SE). High values for extracellular levels of Glu and aspartate (ASP) were detected in association with an increased number of spikes and sharp waves during hyperventilation in 3 of 4 the familial epileptic dogs. The values of other amino acids analyzed were not altered in any of the familial epileptic dogs. Immunohistochemically, Glupositive granules were occasionally found in the perineuronal spaces of the cerebral cortex in 3 of the familial epileptic dogs that died of SE. Immunostains for GLT-1 antibody predominantly decreased in the cerebral cortex and lateral nucleus of the thalamus in all the dogs that died of SE, whereas there were no differences detected in immunolabellings for GLAST and GS antibodies between familial epileptic dogs and controls. These results suggest that an extracellular release of both Glu and Asp may play an important role in the occurrence of seizure activity in this epileptic colony, and that a decreased expression of astrocytic GLT-1 may be related to development of SE.

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Nocturnal frontal lobe epilepsy: A clinical and polygraphic overview of 100 consecutive cases

Cited by 473 publications

References 36 publications

Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy

Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy

Epilepsy and Sleep Disorders

Changes in Extracellular Neurotransmitters in the Cerebrum of Familial Idiopathic Epileptic Shetland Sheepdogs Using an Intracerebral Microdialysis Technique and Immunohistochemical Study for Glutamate Metabolism

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