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Subthalamic nucleus and substantia nigra pars reticulata stimulation: the Grenoble experience
Published in Hans O Lüders, Deep Brain Stimulation and Epilepsy, 2020
Alim-Louis Benabid, Adnan Koudsie, Stephan Chabardes, Laurent Vercueil, Abdelhamid Benazzouz, Lorella Minotti, Jean-François Le Bas, Philippe Kahane, Anne de Saint Martin, Edouard Hirsch
This was a 17-year-old male with autosomal dominant nocturnal frontal lobe epilepsy, suffering from left insulo-opercular seizures. In a month follow-up no significant improvement was observed after HFS of the STN. His father and an uncle as well as his grandfather also had frontal lobe epilepsy, with a favorable evolution. Seizures started at age 5. He has a feeling of fear and asphyxiation followed by hyperapnea, agitation, bilateral motor movements and yelling, without loss of contact and without postictal deficit. Initially, he had up to two seizures per night. The seizures then stopped until age 10. Seizures then recurred but a much higher rate of up to 20 per night. There is no postictal deficit. He was diagnosed as having familial frontal lobe epilepsy. Despite several trials of antiepileptic drugs, seizures persisted, occurring several times a day, predominantly at night. Occasionally, seizures happened in clusters, sometimes requiring dilantin intravenously and hospitalization in an intensive care unit. A pre-surgical depth electrode EEG recording showed that the seizures originate from the insular or insulo-opercular region spreading into the whole left frontal area. Ablative surgery was not possible. There was no sensorimotor deficit.
Epilepsy and Sleep Disorders
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Epilepsy has a complex association with sleep. Certain seizures are more common during sleep, such as frontal lobe seizures, which occur during non-REM sleep. Rarely, nocturnal seizures may be the only manifestation of an epileptic disorder and these can be confused with a parasomnia – this has been especially true for autosomal-dominant nocturnal frontal lobe epilepsy, the seizures of which were thought originally to represent a nocturnal paroxysmal dystonia. Activation of EEG in epilepsy commonly occurs during sleep, so that sleep recordings are much more likely to demonstrate epileptiform abnormalities. Rarely, non-convulsive status epilepticus can occur during slow wave sleep; the clinical manifestation of this is usually intellectual regression and autism. Lack of sleep can precipitate seizures, especially in the idiopathic generalized epilepsies, and sleep apnoea has been reported to worsen seizure control. Sleep disturbances also commonly occur in people with epilepsy in whom there is a higher incidence of sleep apnoea, fragmented sleep and insomnia as well as daytime somnolence (often drug related).
Contemporary surgical management of drug-resistant focal epilepsy
Published in Expert Review of Neurotherapeutics, 2020
Jasmina R. Milovanović, Slobodan M. Janković, Dragan Milovanović, Dejana Ružić Zečević, Marko Folić, Marina Kostić, Goran Ranković, Srđan Stefanović
Genetic factors are involved in almost 70% of epilepsy cases [10], and usually variants of several genes are responsible in the same time, revealing polygenic nature of the disorder. However, relatively small number of well-defined epilepsy syndromes nowadays could be precisely diagnosed by commercially available gene panels: Dravet’s syndrome (the most important are variants of SCN1A gene, while many others are also involved, like SCN2A, SCN8A, SCN9A, etc.), autosomal dominant nocturnal frontal lobe epilepsy (KCNT1 mutation of the gene for nicotinic receptor), familial focal epilepsy with variable foci (certain variants of NPRL2, NPRL3 and DEPDC5 genes) and autosomal dominant temporal lobe epilepsy (mutations of LGI1 and RELN genes). Knowing precise genetic basis of an epilepsy syndrome in a patient is helpful to the clinicians not only to have better estimate of prognosis, but also to choose optimal treatment modality [11].
The safety of treating newly diagnosed epilepsy
Published in Expert Opinion on Drug Safety, 2019
Compared to avoiding certain AEDs in genetically at-risk individuals to improve safety, success in using genetic information to improve treatment efficacy has been more limited. In theory, employing specific therapies to causative mutations can potentially minimize the burden of polytherapy and improve epilepsy severity [92]. Mutations in the KCNT1 gene responsible for a type of calcium-activated potassium channel, for example, are associated with the development of severe epilepsies including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). In-vitro studies [107] and case series [108] supported the potential use of quinidine, an anti-malarial agent, in KCNT1 epilepsies. However, a recent clinical trial of quinidine in six individuals with ADNFLE caused by KCNT1-mutation resulted in no significant reduction in seizure frequency, possibly because of the limitation of dosage by cardiotoxicity [109].
Personalized treatment in the epilepsies: challenges and opportunities
Published in Expert Review of Precision Medicine and Drug Development, 2018
Simona Balestrini, Sanjay M Sisodiya
Genetic heterogeneity is a recurrent feature of clinical epilepsy syndromes. There are many examples of this, such as the well-known Dravet syndrome, where in most cases, the cause is a mutation in the voltage-gated sodium channel type I alpha subunit gene, SCN1A [13], and it represents by far the most frequent indication for DNA analysis within the group of epileptic encephalopathies. However, the yield of SCN1A mutations is around 85%, implying that other genes or SCN1A-related factors may be involved in the same phenotype, such as the PCDH19 gene [14]. Another factor explaining ‘SCN1A-negative’ Dravet syndrome is somatic mosaicism, with a minimal prevalence of SCN1A mosaic deletion recently estimated at 0.9% (95% confidence level: 0.11–3.11%) [15]. Previously incomplete genome annotation may also cause missed diagnoses in patients with epilepsy; therefore, iterative interrogation of clinical exome sequence data that were initially found to be inconclusive, in particular with reevaluation of well-defined alternative exons in known epilepsy genes, is needed when there are negative exome results [16]. Familial nocturnal frontal lobe epilepsy is a further example of genetic heterogeneity, with mutations in the nicotinic acetylcholine receptor subunit genes CHRNA4 and CHRNB2 responsible for the clinical phenotype in only about 12–15% of cases of autosomal-dominant nocturnal frontal lobe epilepsy [17]. Only a single mutation has been described in CHRNA2, encoding the alpha2 subunit of the nicotinic acetylcholine receptor, in a large family of Italian origin with nocturnal frontal lobe epilepsy with atypical features such as wandering and ictal fear [18]. Other genes have also been associated with familial nocturnal frontal lobe epilepsy, including KCNT1 [19] and DEPDC5 [20].