Articles de revues : « Epilepsy, Nocturnal Frontal Lobe Epilepsy, Febrile Seizures »

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Jiang, Yongning, et Xiangqin Zhou. « Frontal lobe epilepsy manifesting as vertigo : a case report and literature review ». Journal of International Medical Research 48, n^o 9 (septembre 2020) : 030006052094616. http://dx.doi.org/10.1177/0300060520946166.

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Frontal lobe epilepsy is a common neurological disorder with a broad spectrum of symptoms. Frontal lobe epilepsy presenting with vertigo is extremely rare, and the relevant pathogenesis remains unclear. Herein, we report a case of frontal lobe epilepsy manifesting as vertigo, and we review the relevant literature. A 34-year-old woman presented with a 10-year history of general tonic–clonic seizures. In the month prior to admission, she experienced nocturnal seizures on two occasions. Video electroencephalogram monitoring showed frequent clinical seizures during which the patient felt transient vertigo. The ictal electroencephalogram revealed a medium-amplitude spike and slow wave complex originating from the frontal lobes. The patient was treated with oral sodium valproate, levetiracetam, and lamotrigine. After a 6-month follow-up period, her seizures were well controlled. Our findings expand the symptom spectrum of epilepsy, suggesting that vertigo can be an uncommon clinical manifestation of frontal lobe epilepsy. Although the pathological correlation between vertigo and epilepsy remains elusive, our findings indicate that vestibular cortical neurons may participate in periodic epileptiform discharges of the frontal lobe. Clinicians should be aware of a potential diagnosis of epilepsy in patients presenting with vertigo as the onset symptom because this condition is usually underdiagnosed.

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Provini, Federica, Pasquale Montagna, Giuseppe Plazzi et Elio Lugaresi. « Nocturnal frontal lobe epilepsy : A wide spectrum of seizures ». Movement Disorders 15, n^o 6 (novembre 2000) : 1264. http://dx.doi.org/10.1002/1531-8257(200011)15:6<1264 ::aid-mds1033>3.0.co;2-4.

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Rathore, Geetanjali, Paul Larsen, Manish Parakh et Cristina Fernandez. « Choking at Night : A Case of Opercular Nocturnal Frontal Lobe Epilepsy ». Case Reports in Pediatrics 2013 (2013) : 1–3. http://dx.doi.org/10.1155/2013/606385.

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Frontal lobe seizures have a tendency to occur in sleep and in most cases occur exclusively insleep; these individuals are said to have nocturnal frontal lobe (NFLE). NFLE can be difficult to distinguish clinically from various other sleep disorders, particularly parasomnias, which also present with paroxysmal motor activity in sleep. Interictal and ictal EEG findings are frequently unremarkable or nonspecific in both parasomnias and NFLE making the diagnosis even more difficult. Nocturnal epilepsy should be suspected in patients with paroxysmal events at night characterized by high frequency, repetition, extrapyramidal features, and marked stereotypy of attacks. Here we present a 13-year-old female who was extensively worked up for choking episodes at night. On repeat video EEG she was found to have frontal opercular seizures. Once on Carbamazepine, her seizures completely resolved.

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Alsaleem, Mahdi, Vivien Carrion, Arie Weinstock et Praveen Chandrasekharan. « Infantile refractory seizures due to de novo KCNT 1 mutation ». BMJ Case Reports 12, n^o 10 (octobre 2019) : e231178. http://dx.doi.org/10.1136/bcr-2019-231178.

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We describe a term female infant who presented with multiple seizures early in infancy. The clinical and electrical seizures were refractory to traditional antiepileptic medications. After extensive workup, seizure panel testing revealed KCNT1 gene mutation, which is associated with nocturnal frontal lobe epilepsy and epilepsy of infancy with migrating focal seizures. The infant’s condition improved with the combination of traditional as well non-traditional antiepileptic therapy.

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El Helou, J., V. Navarro, C. Depienne, E. Fedirko, E. LeGuern, M. Baulac, I. An-Gourfinkel et C. Adam. « K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy ». Clinical Neurophysiology 119, n^o 10 (octobre 2008) : 2201–4. http://dx.doi.org/10.1016/j.clinph.2008.07.212.

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Kanner, Andres M. « Nocturnal Frontal Lobe Epilepsy : There is Bad, Good, and Very Good News ! » Epilepsy Currents 7, n^o 5 (septembre 2007) : 131–33. http://dx.doi.org/10.1111/j.1535-7511.2007.00200.x.

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Surgical Treatment of Drug-Resistant Nocturnal Frontal Lobe Epilepsy. Nobili L, Francione S, Mai R, Cardinale F, Castana L, Tassi L, Sartori I, Didato G, Citterio A, Colombo N, Galli C, Lo Russo G, Cossu M. Brain 2007;130(Pt 2):561–573. Of the cases with nocturnal frontal lobe epilepsy (NFLE) 30% are refractory to antiepileptic medication, with several patients suffering from the effects of both ongoing seizures and disrupted sleep. From a consecutive series of 522 patients operated on for drug-resistant focal epilepsy, 21 cases (4%), whose frontal lobe seizures occurred almost exclusively (>90%) during sleep, were selected. All patients underwent a comprehensive pre-surgical evaluation, which included history, interictal EEG, scalp video-EEG monitoring, high-resolution MRI and, when indicated, invasive recording by stereo-EEG (SEEG). There were 11 males and 10 females, whose mean age at seizure onset was 6.2 years, mean age at surgery was 24.7 years and seizure frequency ranged from <20/month to >300/month. Nine patients reported excessive daytime sleepiness (EDS). Prevalent ictal clinical signs were represented by asymmetric posturing (6 cases), hyperkinetic automatisms (10 cases), combined tonic posturing and hyperkinetic automatisms (4 cases) and mimetic automatisms (1 case). All patients reported some kind of subjective manifestations. Interictal and ictal EEG provided lateralizing or localizing information in most patients. MRI was unrevealing in 10 cases and it showed a focal anatomical abnormality in one frontal lobe in 11 cases. Eighteen patients underwent a SEEG evaluation to better define the epileptogenic zone (EZ). All patients received a microsurgical resection in one frontal lobe, tailored according to pre-surgical evaluations. Two patients were operated on twice owing to poor results after the first resection. Histology demonstrated a Taylor-type focal cortical dysplasia (FCD) in 16 patients and an architectural FCD in 4. In one case no histological change was found. After a post-operative follow-up of at least 12 months (mean 42.5 months) all the 16 patients with a Taylor's FCD were in Engel's Class Ia and the other 5 patients were in Engel's Classes II or III. After 6 months post-surgery EDS had disappeared in the 9 patients who presented this complaint pre-operatively. It is concluded that patients with drug-resistant, disabling sleep-related seizures of frontal lobe origin should be considered for resective surgery, which may provide excellent results both on seizures and on epilepsy-related sleep disturbances. An accurate pre-surgical evaluation, which often requires invasive EEG recording, is mandatory to define the EZ. Further investigation is needed to explain the possible causal relationships between FCD, particularly Taylor-type, and sleep-related seizures, as observed in this cohort of NFLE patients.

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Mathews, Gregory C. « Is Too Much Inhibition to Blame in Autosomal Dominant Nocturnal Frontal Lobe Epilepsy ? » Epilepsy Currents 7, n^o 4 (juillet 2007) : 114–16. http://dx.doi.org/10.1111/j.1535-7511.2007.00193.x.

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Seizures and Enhanced Cortical GABAergic Inhibition in Two Mouse Models of Human Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. Klaassen A, Glykys J, Maguire J, Labarca C, Mody I, Boulter J. Proc Natl Acad Sci USA 2006;103(50):19152–19157. Selected mutations in the human α4 or β2 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 ( Chrna4S252F 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 II/III cortical pyramidal cells reveal a >20-fold increase in nicotine-evoked inhibitory postsynaptic currents with no effect on excitatory postsynaptic currents. i.p. injection of a subthreshold dose of picrotoxin, a use-dependent γ-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 α4-containing nicotinic acetylcholine receptors located on the presynaptic terminals and somatodendritic compartments of cortical GABAergic interneurons.

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Ryvlin, Philippe, Lorella Minotti, Genevieve Demarquay, Edouard Hirsch, Alexis Arzimanoglou, Dominique Hoffman, Marc Guenot, Fabienne Picard, Sylvain Rheims et Philippe Kahane. « Nocturnal Hypermotor Seizures, Suggesting Frontal Lobe Epilepsy, Can Originate in the Insula ». Epilepsia 47, n^o 4 (avril 2006) : 755–65. http://dx.doi.org/10.1111/j.1528-1167.2006.00510.x.

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Pisano, Fabio, Giuliana Sias, Alessandra Fanni, Barbara Cannas, António Dourado, Barbara Pisano et Cesar A. Teixeira. « Convolutional Neural Network for Seizure Detection of Nocturnal Frontal Lobe Epilepsy ». Complexity 2020 (31 mars 2020) : 1–10. http://dx.doi.org/10.1155/2020/4825767.

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The Nocturnal Frontal Lobe Epilepsy (NFLE) is a form of epilepsy in which seizures occur predominantly during sleep. In other forms of epilepsy, the commonly used clinical approach mainly involves manual inspection of encephalography (EEG) signals, a laborious and time-consuming process which often requires the contribution of more than one experienced neurologist. In the last decades, numerous approaches to automate this detection have been proposed and, more recently, machine learning has shown very promising performance. In this paper, an original Convolutional Neural Network (CNN) architecture is proposed to develop patient-specific seizure detection models for three patients affected by NFLE. The performances, in terms of accuracy, sensitivity, and specificity, exceed by several percentage points those in the most recent literature. The capability of the patient-specific models has been also tested to compare the obtained seizure onset times with those provided by the neurologists, with encouraging results. Moreover, the same CNN architecture has been used to develop a cross-patient seizure detection system, resorting to the transfer-learning paradigm. Starting from a patient-specific model, few data from a new patient are enough to customize his model. This contribution aims to alleviate the task of neurologists, who may have a robust indication to corroborate their clinical conclusions.

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De Paolis, Fernando, Elena Colizzi, Giulia Milioli, Andrea Grassi, Silvia Riccardi, Monica Puligheddu, Mario Giovanni Terzano, Francesco Marrosu et Liborio Parrino. « Effects of antiepileptic treatment on sleep and seizures in nocturnal frontal lobe epilepsy ». Sleep Medicine 14, n^o 7 (juillet 2013) : 597–604. http://dx.doi.org/10.1016/j.sleep.2013.02.014.

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Barcia, Giulia, Nicole Chemaly, Mathieu Kuchenbuch, Monika Eisermann, Stéphanie Gobin-Limballe, Viorica Ciorna, Alfons Macaya et al. « Epilepsy with migrating focal seizures ». Neurology Genetics 5, n^o 6 (25 octobre 2019) : e363. http://dx.doi.org/10.1212/nxg.0000000000000363.

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ObjectiveTo report new sporadic cases and 1 family with epilepsy of infancy with migrating focal seizures (EIMFSs) due to KCNT1 gain-of-function and to assess therapies' efficacy including quinidine.MethodsWe reviewed the clinical, EEG, and molecular data of 17 new patients with EIMFS and KCNT1 mutations, in collaboration with the network of the French reference center for rare epilepsies.ResultsThe mean seizure onset age was 1 month (range: 1 hour to 4 months), and all children had focal motor seizures with autonomic signs and migrating ictal pattern on EEG. Three children also had infantile spasms and hypsarrhythmia. The identified KCNT1 variants clustered as “hot spots” on the C-terminal domain, and all mutations occurred de novo except the p.R398Q mutation inherited from the father with nocturnal frontal lobe epilepsy, present in 2 paternal uncles, one being asymptomatic and the other with single tonic-clonic seizure. In 1 patient with EIMFS, we identified the p.R1106Q mutation associated with Brugada syndrome and saw no abnormality in cardiac rhythm. Quinidine was well tolerated when administered to 2 and 4-year-old patients but did not reduce seizure frequency.ConclusionsThe majority of the KCNT1 mutations appear to cluster in hot spots essential for the channel activity. A same mutation can be linked to a spectrum of conditions ranging from EMFSI to asymptomatic carrier, even in the same family. None of the antiepileptic therapies displayed clinical efficacy, including quinidine in 2 patients.

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Freitas, Maria Eliza, Marta Ruiz-Lopez, Josep Dalmau, Roberto Erro, Michael Privitera, Danielle Andrade et Alfonso Fasano. « Seizures and movement disorders : phenomenology, diagnostic challenges and therapeutic approaches ». Journal of Neurology, Neurosurgery & ; Psychiatry 90, n^o 8 (22 février 2019) : 920–28. http://dx.doi.org/10.1136/jnnp-2018-320039.

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Seizures and movement disorders (MDs) are distinct neurological conditions presenting with abnormal movements. Despite sharing an overlap in phenomenology, these movements have different origins. In order to explore the overlaps and the narrow boundaries between these two conditions, we performed a review of the literature to explore the risk of seizures in MDs. We discussed the mimics and chameleons including MDs that look like seizure (eg, paroxysmal dyskinesia, status dystonicus) and seizures that look like MDs (eg,epilepsia partialis continua, nocturnal frontal lobe epilepsy). Additionally, we examined the therapeutic challenges as well as the anatomical and chemical pathways relevant in the interplay between epilepsy and MDs. Finally, we proposed an algorithm to guide clinicians towards the final diagnosis of conditions characterised by the co-occurrence of MDs and seizures.

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Datta, Anita N., Aspasia Michoulas, Ilaria Guella et Michelle Demos. « Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide ». Journal of Child Neurology 34, n^o 12 (17 juin 2019) : 728–34. http://dx.doi.org/10.1177/0883073819854853.

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KCNT1 encodes a sodium-activated potassium channel highly expressed in the brain, regulating hyperpolarization following repetitive firing. Mutations in KCNT1 were originally implicated in autosomal-dominant nocturnal frontal lobe epilepsy and epilepsy of infancy with migrating focal seizures. It is now known that there is variability in phenotypic expression and incomplete penetrance. We describe 2 patients with KCNT1-related epilepsy, one with epilepsy of infancy with migrating focal seizures and one with multifocal epilepsy. As most patients with KCNT1 variants have treatment-resistant epilepsy, drugs that specifically target the KCNT1 channel have been of great interest. Quinidine, a broad-spectrum potassium channel blocker, has shown promise; however, clinical trial results have been variable. Our patient with epilepsy of infancy with migrating focal seizures did not respond to a trial of quinidine at 6 weeks of age—one of the earliest reported quinidine trials in the literature for KCNT1-related epilepsy. This indicates that timing of treatment and response may not be related. Both patients responded to high-dose phenobarbital. The patient with epilepsy of infancy with migrating focal seizures also had a significant reduction in seizures with potassium bromide (KBr). Our data suggest that alternative therapies to quinidine should be considered as a therapeutic option for patients with KCNT1-related epilepsy. Although improved seizure control led to parent-reported improvements in neurodevelopment, it is unknown if phenobarbital and KBr impact the overall developmental trajectory of patients with KCNT1-related epilepsy. Further multicenter longitudinal studies are required.

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Nobili, L., I. Sartori, M. Terzaghi, L. Tassi, R. Mai, S. Francione, M. Cossu, F. Cardinale, L. Castana et G. Lo Russo. « Intracerebral recordings of minor motor events, paroxysmal arousals and major seizures in nocturnal frontal lobe epilepsy ». Neurological Sciences 26, S3 (décembre 2005) : s215—s219. http://dx.doi.org/10.1007/s10072-005-0490-x.

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Calandra-Buonaura, Giovanna, Nicola Toschi, Federica Provini, Ivan Corazza, Francesca Bisulli, Giorgio Barletta, Stefano Vandi et al. « Physiologic autonomic arousal heralds motor manifestations of seizures in nocturnal frontal lobe epilepsy : Implications for pathophysiology ». Sleep Medicine 13, n^o 3 (mars 2012) : 252–62. http://dx.doi.org/10.1016/j.sleep.2011.11.007.

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Datta, AN, L. Wallbank, J. Micallef et PK Wong. « P.095 The many clinical facets of pediatric occipital spikes and the predictive value of consistent EEG dipole ». Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 48, s3 (novembre 2021) : S46. http://dx.doi.org/10.1017/cjn.2021.373.

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Background: Pediatric occipital epileptiform discharges (OEDS) occur in various clinical settings, including benign and symptomatic epilepsies. The study objective is to determine electro-clinical predictors for aetiology and prognosis in children with OEDs. Methods: 205 patients with OEDs were classified into seizure groups: symptomatic (n=98), idiopathic focal (IF) (n=57), idiopathic generalized (IG) (n=18), no-seizures (n=27) and febrile seizures (n=5). Results: The median age of seizure onset was 3 years (range: 0-19). There was more EEG background slowing (P<0.05) in the symptomatic; photosensitivity (P<0.0001) and GSW (P<0.0001) in IG; and presence of consistent EEG spike dipole in IF group. The symptomatic had more DD (P< 0.0001), autism (P <0.019), and school difficulties (P<0.001) than the IF and IG groups, but not different from the no-seizure group. Conclusions: OEDs with consistent dipole spike is predictive of IF epilepsy. In contrast to frontal and temporal lobe epilepsy, only 30% with symptomatic epilepsy had occipital-predominant neuro-imaging abnormalities. Notably, neuro-psychiatric co-morbidities were similar between the symptomatic and no-seizure group.

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Xie, Na, Weiwei Qin, Jianzhong Deng, Jinxing Qi, Dewang Niu, Guifeng Lu et Qun Wang. « A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy ». Translational Neuroscience 12, n^o 1 (1 janvier 2021) : 330–34. http://dx.doi.org/10.1515/tnsci-2020-0182.

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Abstract We describe a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy (ADNFLE) and psychiatric problems in whom whole-exome family trio sequencing identified a heterozygous mutation in the potassium channel subfamily T, member 1 (KCNT1), a sodium-gated potassium channel gene, which was a novel missense mutation c.2153A>T (p. Asp718Val). The typical characteristics of the three patients in the family were refractory epilepsy, acquired cognitive impairment, and psychiatric problems, which include hallucinations and suicidal thoughts and behaviors. The age at onset was found to be earlier in son and daughter of the proband than that of the proband, as proven by the proband’s history of an epileptic seizure at the age of 16 years and her son’s and daughter’s history of seizures at the age of 8 years. Magnetic resonance imaging findings were negative for any abnormalities. Because of psychiatric symptoms, these three patients were administered risperidone at different times during their illness. The protestor’s son had tried fenofibrate treatment, but clinical remission was unclear. In summary, our findings broadened the mutation database in relation to KCNT1 and implicated the sodium-gated potassium channel complex in ADNFLE, more broadly, in the pathogenesis of focal epilepsies.

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CUKIERT, ARTHUR, CASSIO FORSTER, JOSE AUGUSTO BURATINI, VIVIANE BORGES FERREIRA et GARY GRONICH. « Secondary bilateral synchrony due to fronto-mesial lesions : an invasive recording study ». Arquivos de Neuro-Psiquiatria 57, n^o 3A (septembre 1999) : 636–42. http://dx.doi.org/10.1590/s0004-282x1999000400016.

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Frontal lobe epilepsies may present difficulties in focus localization in the pre-operative work-up for epilepsy surgery. This is specially true in patients with normal MRIs. We report on a 16 years-old girl that started with seizures by the age of 8 years. They were brief nocturnal episodes with automatisms such as bicycling and boxing. Seizure frequency ranged from 4-10 per night. Scalp EEG showed few right frontal convexity spiking and intense secondary bilateral syncrhony (SBS). High resolution MRI directed to the frontal lobes was normal. Ictal SPECT suggested a right fronto-lateral focus. Ictal video-EEG showed no focal onset. She was submitted to invasive recordings after subdural plates implantation. Electrodes covered all the frontal convexity and mesial surface bilaterally. Ictal recordings disclosed stereotyped seizures starting from the right mesial frontal. Using a high-resolution tool to measure intra and interhemispheric latencies, the timing and direction of seizure spread from the right fronto-mesial region were studied. Motor strip mapping was performed by means of electrical stimulation. She was submitted to a right frontal lobe resection, 1.5 cm ahead of the motor strip and has been seizure free since surgery (8 months). Pathological examination found a 4 mm area of cortical dysplasia. Invasive studies are needed to allow adequate localization in patients with non-localizatory non-invasive work-up and may lead to excellent results in relation to seizures after surgery.

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Nascimento, FA, F. Borlot, P. Cossette, B. Minassian et D. Andrade. « B.06 Two definite sudden unexpected deaths in epilepsy in a family with a DEPDC5 mutation ». Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 43, S2 (juin 2016) : S10. http://dx.doi.org/10.1017/cjn.2016.65.

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Background:DEPDC5 gene, mapped to 22q12.2-q12.3, has been associated with a variety of familial epilepsies, including FFEVF, autosomal dominant nocturnal frontal lobe epilepsy, and familial TLE. Notably, DEPDC5 has never been linked to increased risk of sudden unexpected death in epilepsy (SUDEP). Methods: Cases review. Results: We studied a three-generation, non-consanguineous, French-Canadian family with nine clinically affected individuals. The index case is a 39-year-old man who started having seizures (as 2rily GTCS) at the age of 13 years. EEGs showed interictal discharges over the right anterior-temporal region. Brain MRI was unremarkable. Two individuals in this family suffered definite autopsy-confirmed SUDEP, at the ages of 58 and 50 years, respectively. Overall, seizure-history in this family can be summarized by an onset before reaching adulthood followed by subsequent progressive decrease in seizure frequency. Seizures were predominantly nocturnal 2rily GTC. Genetic analysis revealed a pathogenic heterozygous variant in the DEDPC5 gene (p.Gln216, c.646C>T), which results in a premature stop codon, in all affected family members plus on heatlhy relative. Importantly, all the subjects were cognitively intact, and there was no history of cardiac symptomatology/cardiovascular risk factor. Conclusions: The finding in this family suggests that DEPDC5 mutations may be a risk factor for SUDEP.

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Klaassen, A., J. Glykys, J. Maguire, C. Labarca, I. Mody et J. Boulter. « Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy ». Proceedings of the National Academy of Sciences 103, n^o 50 (4 décembre 2006) : 19152–57. http://dx.doi.org/10.1073/pnas.0608215103.

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Ali, Hamed, et Suzanne Stevens. « 1219 A CASE OF A NIGHT TIME AFFAIR ». Sleep 43, Supplement_1 (avril 2020) : A466. http://dx.doi.org/10.1093/sleep/zsaa056.1213.

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Abstract Introduction Sleep associated seizures especially Nocturnal Frontal Lobe Epilepsy (NFLE) represents a spectrum of challenging clinical manifestations presenting as complex nocturnal movements/behaviors, making the diagnosis often difficult. Report of Case A 64 y/o male, with history of ongoing complex movements occurring during his sleep, with no history of strokes or neurological deficits. Had extensive neurologic workup (all negative) including routine electroencephalogram (EEG), prolonged inpatient EEG (12 hours), and MRI of the brain. Home sleep study showing moderate obstructive sleep apnea (OSA) AHI 24/hour successfully treated with CPAP therapy (residual AHI 1.7/hour) with improved nighttime symptoms initially. Wife recalls events as happening only at night while sleep, as patient often confused upon waking up in the morning, at times appear to sit up and smack his lips. No nighttime hallucinations, sleep paralysis, or acting out dreams were reported. Had two episodes associated with tongue biting and loss of bladder control. Another episode happened after a daytime nap, patient went outside and was mowing his lawn, went “completely blank “, appeared confused. No daytime or nighttime seizures were ever noticed. Patient do not recall any of the above events. Repeat EEG was normal. MRI/MRA of the head /neck showed small tiny focus in left frontoparietal lobe, suggesting remote cortical ischemic injury. Polysomnography (PSG) with seizure montage showed Interictal epileptic discharges (IEDs) foci recorded in the frontal/frontopolar leads without accompanying body movements. Interictal spike and wave activity seen during stage N2. Initially treated with carbamazepine (had skin reaction) switched to levetiracetam with complete resolution of his symptoms. Conclusion This case illustrates the importance of reviewing the clinical history, behavior semiology, and diagnostic ancillary testing such as polysomnography with EEG monitoring in distinguishing nocturnal epileptic seizures from other nocturnal complex behavior disorders and parasomnias.

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Mullen, Saul A., Patrick W. Carney, Annie Roten, Michael Ching, Paul A. Lightfoot, Leonid Churilov, Umesh Nair et al. « Precision therapy for epilepsy due to KCNT1 mutations ». Neurology 90, n^o 1 (1 décembre 2017) : e67-e72. http://dx.doi.org/10.1212/wnl.0000000000004769.

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ObjectiveTo evaluate quinidine as a precision therapy for severe epilepsy due to gain of function mutations in the potassium channel gene KCNT1.MethodsA single-center, inpatient, order-randomized, blinded, placebo-controlled, crossover trial of oral quinidine included 6 patients with severe autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) due to KCNT1 mutation. Order was block randomized and blinded. Four-day treatment blocks were used with a 2-day washout between. Dose started at 900 mg over 3 divided doses then, in subsequent participants, was reduced to 600 mg, then 300 mg. Primary outcome was seizure frequency measured on continuous video-EEG in those completing the trial.ResultsProlonged QT interval occurred in the first 2 patients at doses of 900 and 600 mg quinidine per day, respectively, despite serum quinidine levels well below the therapeutic range (0.61 and 0.51 μg/mL, reference range 1.3–5.0 μg/mL). Four patients completed treatment with 300 mg/d without adverse events. Patients completing the trial had very frequent seizures (mean 14 per day, SD 7, median 13, interquartile range 10–18). Seizures per day were nonsignificantly increased by quinidine (median 2, 95% confidence interval −1.5 to +5, p = 0.15) and no patient had a 50% seizure reduction.ConclusionQuinidine did not show efficacy in adults and teenagers with ADNFLE. Dose-limiting cardiac side effects were observed even in the presence of low measured serum quinidine levels. Although small, this trial suggests use of quinidine in ADNFLE is likely to be ineffective coupled with considerable cardiac risks.Clinical trials registrationAustralian Therapeutic Goods Administration Clinical Trial Registry (trial number 2015/0151).Classification of evidenceThis study provides Class II evidence that for persons with severe epilepsy due to gain of function mutations in the potassium channel gene KCNT1, quinidine does not significantly reduce seizure frequency.

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McTague, Amy, Umesh Nair, Sony Malhotra, Esther Meyer, Natalie Trump, Elena V. Gazina, Apostolos Papandreou et al. « Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy ». Neurology 90, n^o 1 (1 décembre 2017) : e55-e66. http://dx.doi.org/10.1212/wnl.0000000000004762.

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ObjectiveTo characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy.MethodsWe identified a cohort of 31 patients with epilepsy of infancy with migrating focal seizures (EIMFS) and screened for variants in KCNT1 using direct Sanger sequencing, a multiple-gene next-generation sequencing panel, and whole-exome sequencing. Additional patients with non-EIMFS early-onset epilepsy in whom we identified KCNT1 variants on local diagnostic multiple gene panel testing were also included. When possible, we performed homology modeling to predict the putative effects of variants on protein structure and function. We undertook electrophysiologic assessment of mutant KCNT1 channels in a xenopus oocyte model system.ResultsWe identified pathogenic variants in KCNT1 in 12 patients, 4 of which are novel. Most variants occurred de novo. Ten patients had a clinical diagnosis of EIMFS, and the other 2 presented with early-onset severe nocturnal frontal lobe seizures. Three patients had a trial of quinidine with good clinical response in 1 patient. Computational modeling analysis implicates abnormal pore function (F346L) and impaired tetramer formation (F502V) as putative disease mechanisms. All evaluated KCNT1 variants resulted in marked gain of function with significantly increased channel amplitude and variable blockade by quinidine.ConclusionsGain-of-function KCNT1 pathogenic variants cause a spectrum of severe focal epilepsies with onset in early infancy. Currently, genotype-phenotype correlations are unclear, although clinical outcome is poor for the majority of cases. Further elucidation of disease mechanisms may facilitate the development of targeted treatments, much needed for this pharmacoresistant genetic epilepsy.

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Cadieux-Dion, Maxime, Simone Meneghini, Chiara Villa, Dènahin Hinnoutondji Toffa, Ronny Wickstrom, Alain Bouthillier, Ulrika Sandvik et al. « Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy ». Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 47, n^o 6 (15 juin 2020) : 800–809. http://dx.doi.org/10.1017/cjn.2020.126.

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Abstract:Purpose:Our purpose was to determine the role of CHRNA4 and CHRNB2 in insular epilepsy.Method:We identified two patients with drug-resistant predominantly sleep-related hypermotor seizures, one harboring a heterozygous missense variant (c.77C>T; p. Thr26Met) in the CHRNB2 gene and the other a heterozygous missense variant (c.1079G>A; p. Arg360Gln) in the CHRNA4 gene. The patients underwent electrophysiological and neuroimaging studies, and we performed functional characterization of the p. Thr26Met (c.77C>T) in the CHRNB2 gene.Results:We localized the epileptic foci to the left insula in the first case (now seizure-free following epilepsy surgery) and to both insulae in the second case. Based on tools predicting the possible impact of amino acid substitutions on the structure and function of proteins (sorting intolerant from tolerant and PolyPhen-2), variants identified in this report could be deleterious. Functional expression in human cell lines of α4β2 (wild-type), α4β2-Thr26Met (homozygote), and α4β2/β2-Thr26Met (heterozygote) nicotinic acetylcholine receptors revealed that the mutant subunit led to significantly higher whole-cell nicotinic currents. This feature was observed in both homo- and heterozygous conditions and was not accompanied by major alterations of the current reversal potential or the shape of the concentration-response relation.Conclusions:This study suggests that variants in CHRNB2 and CHRNA4, initially linked to autosomal dominant nocturnal frontal lobe epilepsy, are also found in patients with predominantly sleep-related insular epilepsy. Although the reported variants should be considered of unknown clinical significance for the moment, identification of additional similar cases and further functional studies could eventually strengthen this association.

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Calandra-Buonaura, Giovanna, Nicola Toschi, Federica Provini, Ivan Corazza, Francesca Bisulli, Giorgio Barletta, Stefano Vandi et al. « Corrigendum to “Physiologic autonomic arousal heralds motor manifestations of seizures in nocturnal frontal lobe epilepsy : Implications for pathophysiology” [Sleep Medicine 13/3 (2012) 252–262] ». Sleep Medicine 13, n^o 7 (août 2012) : 968. http://dx.doi.org/10.1016/j.sleep.2012.03.006.

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Kedmi, Merav, Arthur L. Beaudet et Avi Orr-Urtreger. « Mice lacking neuronal nicotinic acetylcholine receptor β4-subunit and mice lacking both α5- and β4-subunits are highly resistant to nicotine-induced seizures ». Physiological Genomics 17, n^o 2 (13 avril 2004) : 221–29. http://dx.doi.org/10.1152/physiolgenomics.00202.2003.

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Nicotine, the main addictive component of tobacco, evokes a wide range of dose-dependent behaviors in rodents, and when administrated in high doses, it can induce clonic-tonic seizures. Nicotine acts through the nicotinic acetylcholine receptors (nAChRs). Mutations in the human α4- and the β2-nAChR subunit genes cause autosomal dominant nocturnal frontal lobe epilepsy. Using transgenic mice with mutations in nAChR subunits, it was demonstrated previously that the α4-, α5-, and α7-subunits are involved in nicotine-induced seizures. To examine the possibility that the β4-subunit is also involved in this phenotype, we tested mice with homozygous β4-subunit deficiency. The β4 null mice were remarkably resistant to nicotine-induced seizures compared with wild-type and α5 null mice. We also generated mice with double deficiency of both α5- and β4-nAChR subunits and demonstrated that they were more resistant to nicotine’s convulsant effect than either the α5 or the β4 single mutant mice. In addition, the single α5 mutants and the double α5β4-deficient mice exhibited a significantly shorter latency time to seizure than that of the wild-type mice. Our results thus show that β4-containing nAChRs have a crucial role in the pathogenesis of nicotine-induced seizures. Furthermore, by comparing multiple mutant mice with single and double subunit deficiency, we suggest that nicotinic receptors containing either α5- or β4-subunits are involved in nicotine-induced seizures and that receptors containing both subunits are likely to contribute to this phenomena as well. However, the α5-subunit, but not the β4-subunit, regulates the rate of response to high doses of nicotine.

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Praticò, Andrea D., Raffaele Falsaperla, Agata Polizzi et Martino Ruggieri. « Monogenic Epilepsies : Channelopathies, Synaptopathies, mTorpathies, and Otheropathies ». Journal of Pediatric Neurology, 13 avril 2021. http://dx.doi.org/10.1055/s-0041-1727098.

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AbstractEpilepsy has been historically defined as the recurrence of two or more seizures, together with typical electroencephalogram (EEG) changes, and significant comorbidities, including cardiac and autonomic changes, injuries, intellectual disability, permanent brain damage, and higher mortality risk. Epilepsy may be the consequence of several causes, including genetic anomalies, structural brain malformations, hypoxic–ischemic encephalopathy, brain tumors, drugs, and all contributing factors to the imbalance between excitatory and inhibitory neurons and modulatory interneurons which in turn provoke abnormal, simultaneous electric discharge(s) involving part, or all the brain. In the pregenetic, pregenomic era, in most cases, the exact cause of such neuronal/interneuronal disequilibrium remained unknown and the term “idiopathic epilepsy” was used to define all the epilepsies without cause. At the same time, some specific epileptic syndromes were indicated by the eponym of the first physician who originally described the condition (e.g., the West syndrome, Dravet syndrome, Ohtahara syndrome, and Lennox–Gastaut syndrome) or by some characteristic clinical features (e.g., nocturnal frontal lobe epilepsy, absence epilepsy, and epilepsy and mental retardation limited to females). In many of these occurrences, the distinct epileptic syndrome was defined mainly by its most relevant clinical feature (e.g., seizure semiology), associated comorbidities, and EEGs patterns. Since the identification of the first epilepsy-associated gene (i.e., CHRNA4 gene: cholinergic receptor neuronal nicotinic α polypeptide 4), one of the genes responsible for autosomal dominant nocturnal frontal lobe epilepsy (currently known as sleep-related hypermotor epilepsy) in 1995, the field of epilepsy and the history of epilepsy gene discoveries have gone through at least three different stages as follows: (1) an early stage of relentless gene discovery in monogenic familial epilepsy syndromes; (2) a relatively quiescent and disappointing period characterized by largely negative genome-wide association candidate gene studies; and (3) a genome-wide era in which large-scale molecular genetic studies have led to the identification of several novel epilepsy genes, especially in sporadic forms of epilepsy. As of 2021, more than 150 epilepsy-associated genes or loci are listed in the Online Mendelian Inheritance in Man database.

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Venti, Valeria, Lina Ciccia, Bruna Scalia, Laura Sciuto, Carla Cimino, Simona Marino, Andrea D. Praticò et Raffaele Falsaperla. « KCNT1-Related Epilepsy : A Review ». Journal of Pediatric Neurology, 21 mai 2021. http://dx.doi.org/10.1055/s-0041-1728688.

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Abstract KCNT1 gene encodes the sodium-dependent potassium channel reported as a causal factor for several different epileptic disorders. The gene has been also linked with cardiac disorders and in a family to sudden unexpected death in epilepsy. KCNT1 mutations, in most cases, result in a gain of function causing a neuronal hyperpolarization with loss of inhibition. Many early-onset epileptic encephalopathies related to gain of function of KCNT1 gene have been described, most often associated with two phenotypes: malignant migrating focal seizures of infancy and familial autosomal-dominant nocturnal frontal lobe epilepsy; however, there is no clear phenotype–genotype correlation, in fact same mutations have been represented in patients with West syndrome, Ohtahara syndrome, and early myoclonic encephalopathy. Additional neurologic features include intellectual disability, psychiatric disorders, hypotonia, microcephaly, strabismus, and movement disorders. Conventional anticonvulsant, vagal stimulation, and ketogenic diet have been used in the absence of clinical benefit in individuals with KCNT1-related epilepsy; in some patients, quinidine therapy off-label has been practiced successfully. This review aims to describe the characteristics of the gene, the phenotypes related to genetic mutations with the possible genotype–phenotype correlations and the treatments proposed to date, discussing the comorbidities reported in the literature.

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Khamdiyeva, Ozada, Zhanerke Tileules, Gulminyam Baratzhanova, Anastassiya Perfilyeva et Leyla Djansugurova. « The study of sodium and potassium channel gene single-nucleotide variation significance in non-mechanical forms of epilepsy ». Egyptian Journal of Medical Human Genetics 22, n^o 1 (15 janvier 2021). http://dx.doi.org/10.1186/s43042-020-00123-y.

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Abstract Background Epilepsy is one of the most common and heterogeneous neurological diseases. The main clinical signs of the disease are repeated symptomatic or idiopathic epileptic seizures of both convulsive and non-convulsive nature that develop against a background of lost or preserved consciousness. The genetic component plays a large role in the etiology of idiopathic forms of epilepsy. The study of the molecular genetic basis of neurological disorders has led to a rapidly growing number of gene mutations known to be involved in hereditary ion channel dysfunction. The aim of this research was to evaluate the involvement of single-nucleotide variants that modify the function of genes (SCN1A, KCNT1, KCNTС1, and KCNQ2) encoding sodium and potassium ion channel polypeptides in the development of epilepsy. Results De novo mutations in the sodium channel gene SCN1A c.5347G>A (p. Ala1783Thr) were detected in two patients with Dravet syndrome, with a deletion in exon 26 found in one. Three de novo mutations in the potassium channel gene KCNT1 c.2800G>A (p. Ala934Thr), were observed in two patients with temporal lobe epilepsy (TLE) and one patient with residual encephalopathy. Moreover, a control cohort matched to the case cohort did not reveal any SNVs among conditionally healthy individuals, supporting the pathogenic significance of the studied SNVs. Conclusion Our results are supported by literature data showing that the sodium ion channel gene SCN1A c.5347G>A mutation may be involved in the pathogenesis of Dravet syndrome. We also note that the c.2800G>A mutation in the potassium channel gene KCNT1 can cause not only autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) but also other forms of epilepsy. To treat pathogenetic mutations that accelerate the function of sodium and potassium ion channels, we recommend ion channel blockade drug therapy.

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