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Mutations in STXBP1 have been identified in a subset of patients with early onset epileptic encephalopathy (EE), but the full phenotypic spectrum remains to be delineated. Therefore, we screened a cohort of 160 patients with an unexplained EE, including patients with early myoclonic encephalopathy (EME), Ohtahara syndrome, West syndrome, nonsyndromic EE with onset in the first year, and Lennox-Gastaut syndrome (LGS). We found six de novo mutations in six patients presenting as Ohtahara syndrome (2/6, 33%), West syndrome (1/65, 2%), and nonsyndromic early onset EE (3/64, 5%). No mutations were found in LGS or EME. Only two of four mutation carriers with neonatal seizures had Ohtahara syndrome. Epileptic spasms were present in five of six patients. One patient with normal magnetic resonance imaging (MRI) but focal seizures underwent epilepsy surgery and seizure frequency dropped drastically. Neuropathology showed a focal cortical dysplasia type 1a. There is a need for additional neuropathologic studies to explore whether STXBP1 mutations can lead to structural brain abnormalities.

In 2008, a group of Belgian epilepsy experts published recommendations for antiepileptic drug (AED) treatment of epilepsies in adults and children. Selection of compounds was based on the registration and reimbursement status in Belgium, the level of evidence for efficacy, common daily practice and the personal views and experiences of the authors. In November 2011 the validity of these recommendations was reviewed by the same group of Belgian epilepsy experts who contributed to the preparation of the original paper. The recommendations made in 2008 for initial monotherapy in paediatric patients were still considered to be valid, except for the first choice treatment for childhood absence epilepsy. This update therefore focuses on the treatment recommendations for initial monotherapy and add-on treatment in adult patients. Several other relevant aspects of treatment with AEDs are addressed, including considerations for optimal combination of AEDs (rational polytherapy), pharmacokinetic properties, pharmacodynamic and pharmacokinetic interaction profile, adverse effects, comorbidity, treatment of elderly patients, AED treatment during pregnancy, and generic substitution of AEDs. © 2012 The Author(s).

Background: Given the continuous knowledge progression and the growing number of available antiepileptic drugs (AEDs), making appropriate treatment choices for patients with epilepsy is increasingly difficult. While published guidelines help for separate clinical aspects, patients with a combination of specific characteristics may escape proper guidance. This study aimed to determine the appropriateness of AEDs for particular clinical variables and to offer treatment recommendations for adult patients with epilepsy in a user-friendly format for practicing neurologists. Methods: Using the RAND/UCLA Appropriateness Method, the appropriateness of AEDs as initial/second mono-therapy and combination therapy was assessed in relation to selected clinical variables by a Belgian panel of 13 experts in epilepsy. Panel recommendations for particular patient profiles were determined by the outcome of these separate ratings. Results: The appropriateness outcome of individual AEDs was not substantially different between first and second mono-therapy; valproate was considered appropriate for all types of generalised and partial seizures. The outcome for combination therapy was highly dependent on the type of AED and seizures. With respect to co-morbidities and co-treatments, levetiracetam and pregabalin proved to have the least contra-indications. For the elderly and with respect to factors related to the female reproductive system the appropriateness of AEDs showed a more diffuse pattern. Although caution was deemed necessary for some combinations, the AEDs were never considered inappropriate regarding their drug interaction profile. Conclusions: The Epi-Scope ® tool that displays appropriateness recommendations for highly specific, possibly complex cases, supports optimal treatment choices for adult patients with epilepsy in daily practice. © 2011 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved., SCOPUS: ar.j, info:eu-repo/semantics/published

La chirurgie de l'épilepsie est devenue une alternative de choix dans le traitement de l'épilepsie pharmaco-résistante. Elle permet d'améliorer le confort de vie du patient épileptique mais aussi de réduire les répercussions majeures qui l'accompagnent, parmi lesquelles la comorbidité psychiatrique. Les liens entre psychiatrie et épilepsie sont très largement documentés, liens qui peuvent perdurer au-delà de l'intervention chirurgicale. C'est ce constat qui fonde l'indication d'un examen psychiatrique dans le bilan préopératoire relatif à la chirurgie de l'épilepsie. Cet article a pour vocation de décrire les enjeux et la nature de cet examen psychiatrique préopératoire, au travers d'une revue de la littérature scientifique qui s'y rapporte. II tentera enfin de l'illustrer par la présentation d'une vignette clinique.

This paper proposes therapeutic guidelines for the management of some epileptic syndromes in infants, children, and adolescents, based on available medical literature and clinical practice in the French Community of Belgium. The guidelines address both epileptic encephalopathies (West syndrome, Lennox-Gastaut syndrome, and Dravet syndrome) and idiopathic epilepsies (typical absence seizures, epilepsy with centro-temporal spikes and juvenile myoclonic epilepsy)., Journal Article, Review, info:eu-repo/semantics/published

Objectives-(i) To describe the medical treatment of epilepsy in Belgium in 2006, (ii) to detect the presence or absence of consensus in epilepsy treatment and (iii) to analyze the evolution of the neurologists' opinion between 2003 and 2006. Materials and methods-In December 2006, 100 neurologists were interviewed with a structured questionnaire, based on ordinal four-point scales. The questionnaire contained questions on treatment choices in adult patients with epilepsy. The results of this survey were compared with results of a previous one done in 2003. Results-Initial monotherapy was the preferred treatment strategy. Valproate was first choice in idiopathic generalized epilepsy. Carbamazepine and oxcarbazepine were first choice in focal epilepsy with partial seizures. Valproate was also first choice in focal epilepsy with secondarily generalized seizures. New antiepileptic drugs were recommended in second line. However, in special treatment situations, they were considered first-line, e.g. lamotrigine in case of women in childbearing age. In comparison with 2003, there was a trend of using earlier the new antiepileptic drugs. Conclusions-In end 2006, carbamazepine, valproate and oxcarbazepine were considered to be first choice drugs, whereas other newer drugs, like lamotrigine, levetiracetam and topiramate were predominantly prescribed in second line. © 2009 Blackwell Munksgaard., SCOPUS: ar.j, FLWIN, info:eu-repo/semantics/published

The large choice of antiepileptic drugs (AEDs) in Belgium complicates the selection of the appropriate product for the individual patient. International guidelines on the treatment of epilepsy have been published, but are not tailored to the Belgian situation. This publication presents recommendations from a group of Belgian epilepsy experts for the practical management of epilepsy in general practice in Belgium. It includes recommendations for initial monotherapy and add-on treatment in adult patients (>= 16 years) and initial monotherapy in paediatric patients (< 16 years). For these three situations a first choice AED is recommended. One or more alternative first choice AEDs are defined for patients in which certain patient- or AED-related factors preclude the use of the first choice product. Selection of compounds was based on the registration and reimbursement status in Belgium, the level of evidence of efficacy, common daily practice and the personal views and experiences of the authors. The paper reflects the situation in 2008. In addition to the treatment recommendations, other relevant points to consider in the treatment of epilepsy with AEDs are addressed, including comorbidity and age of the patient, the interaction potential, pharmacokinetic properties and safety profile of the AEDs, and generic substitution.

Case Reports, Journal Article, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published

Kenou van RijckevorselReference Centre of Refractory Epilepsy, Cliniques Universitaires St Luc, Université Catholique de Louvain, Brussels, BelgiumAbstract: Lennox-Gastaut syndrome (LGS) is a rare, age-related syndrome, characterized by multiple seizure types, a specific electro-encephalographic pattern, and mental regression. However, published data on the etiology, evolution, and therapeutic approach of LGS are contradictory, partly because the precise definition of LGS used in the literature varies. In the most recent classification, LGS belongs to the epileptic encephalopathies and is highly refractory to all antiepileptic drugs. Numerous treatments, medical and non-medical, have been proposed and results mostly from open studies or case series have been published. Sometimes, patients with LGS are included in a more global group of patients with refractory epilepsy. Only 6 randomized double-blind controlled trials of medical treatments, which included patients with LGS, have been published. Overall, treatment is rarely effective and the final prognosis remains poor in spite of new therapeutic strategies. Co-morbidities need specific treatment. This paper summarizes the definition, diagnosis and therapeutic approach to LGS, including not only recognized antiepileptic drugs, but also “off label” medications, immune therapy, diet, surgery and some perspectives for the future.Keywords: Lennox-Gastaut syndrome, treatment, VNS, surgery, epileptic encephalopathies, LGS, refractory

The large choice of antiepileptic drugs (AEDs) in Belgium complicates the selection of the appropriate product for the individual patient. International guide-lines on the treatment of epilepsy have been published, but are not tailored to the Belgian situation. This publication presents recommendations from a group of Belgian epilepsy experts for the practical management of epilepsy in general practice in Belgium. It includes recommendations for initial monotherapy and add-on treatment in adult patients (≥ 16 years) and initial monotherapy in paediatric patients (< 16 years). For these three situations a first choice AED is recommended. One or more alternative first choice AEDs are defined for patients in which certain patient- or AED-related factors preclude the use of the first choice product. Selection of compounds was based on the registration and reimbursement status in Belgium, the level of evidence of efficacy, common daily practice and the personal views and experiences of the authors. The paper reflects the situation in 2008. In addition to the treatment recommendations, other relevant points to consider in the treatment of epilepsy with AEDs are addressed, including comorbidity and age of the patient, the interaction potential, pharmacokinetic properties and safety profile of the AEDs, and generic substitution., SCOPUS: ar.j, info:eu-repo/semantics/published

Introduction: Vagus nerve stimulation (VNS) is a symptomatic add-on treatment for patients with medically refractory epilepsy. It consists of continuous electrical stimulation of the left vagus nerve by means of a helical electrode and an implantable, programmable pulse generator. Currently, over 50,000 patients are treated with VNS worldwide. Aim: This uncontrolled, open-label retrospective study evaluates long-term outcome in patients treated with VNS for refractory epilepsy in seven different epilepsy centres in Belgium. Methods: For the purpose of this study, a minimum of essential inclusion criteria were defined to collect relevant data. This limited the results to basic findings with regards to efficacy on the long term. Inclusion criteria were a follow-up of at least 12 months and a documented seizure diary before implantation and at maximum follow-up. Primary outcome measures were the reduction in mean monthly seizure frequency and the percentage of patients with a seizure reduction of at least 50% (responder rate). Results: About 138 patients (67M/71F) had a mean age of 30 years (range 4-59) at time of implantation and a mean post-implantation follow-up of 44 months (range 12-120). The mean number of AEDs before implantation was 3 (range 1-5). About 117/138 patients had focal epilepsy, 21 patients had symptomatic generalised epilepsy. About 117/138 patients were older than 16 years, 21 patients were 16 or younger. At maximum follow-up, mean stimulation output current was 1.84 mA (range 0-3.25). Mean number of AEDs at maximum follow-up remained unchanged. The overall reduction in mean monthly seizure frequency was 51%. Mean seizure frequency before implantation was 41 seizures/month (SD = 61; range 1-300), mean seizure frequency after implantation at maximum follow-up was 7 seizures/month (SD = 25; range 0-120). Responder rate was 59%. 13% of patients had a seizure frequency decrease between 30% and 50%. About 28% had a seizure frequency decrease of <30%. Se

Objectives - To describe the choice of treatment in adult patients with epilepsy in Belgium, to detect the presence or absence of consensus among neurologists in epilepsy treatment, and to analyze the gaps between current guidelines and prescriptions. Materials and methods - Hundred Belgian neurologists were systematically interviewed between May and June 2003 using a structured questionnaire (modified Rand method). Results - Initial monotherapy was the preferred treatment strategy. Valproate was the first choice in idiopathic generalized epilepsy (IGE) and carbamazepine in focal epilepsy (FE). The new antiepileptic drugs (AED) were usually recommended in second-line. However, in special treatment situations, they were considered first-line, e.g. lamotrigine in case of women of childbearing age. Conclusions - Neurologists reached consensus for most questions on epilepsy treatment. In 2003, monotherapy with valproate and carbamazepine was the common treatment strategy in Belgium, whereas lamotrigine and to a lesser extent levetiracetam, topiramate, and oxcarbazepine were predominantly prescribed in second-line. This is in agreement with the recently published UK epilepsy guidelines but not in agreement, however, with the US guidelines, that for new onset epilepsy, new and old drugs are equally effective. Belgian neurologists, except for some special situations still prefer old drugs as first line. © 2007 Blackwell Munksgaard., SCOPUS: ar.j, FLWIN, info:eu-repo/semantics/published

This report describes the first neonatal case of "malignant migrating partial seizures in infancy" with a positive therapeutic response to levetiracetam. This patient is the youngest reported infant with this rare syndrome, and the report provides the first documentation on levetiracetam treatment in a neonatal patient. Treatment with levetiracetam improved both ictal and interictal status. This observation also highlights the need to consider and include malignant migrating partial seizures in the differential diagnosis of early neonatal seizure disorders, even during the first hours of life. © 2006 Elsevier Inc. All rights reserved., SCOPUS: ar.j, info:eu-repo/semantics/published

The authors propose to define the epileptic syndromes with continuous spikes and waves during slow sleep (CSWS) as a cognitive or behavioral impairment acquired during childhood, associated with a strong activation of the interictal epileptiform discharges during NREM sleep--whatever focal or generalized--and not related to another factor than the presence of CSWS. The type of syndrome will be defined according to the neurological and neuropsychological deficit. These syndromes have to be classified among the localization-related epileptic syndromes. Some cases are idiopathic and others are symptomatic. Guidelines for work-up and treatment are proposed., Journal Article, Review, SCOPUS: ar.j, info:eu-repo/semantics/published

Seizures starting in patients over 60 years old are frequent. Diagnosis is sometimes difficult and frequently under- or overrated. Cerebrovascular disorders are the main cause of a first seizure. Because of more frequent comorbidities, physiologic changes, and a higher sensitivity to drugs, treatment has some specificity in elderly people. The aim of this paper is to present the result of a consensus meeting held in October 2004 by a Belgian French-speaking group of epileptologists and to propose guidelines for the management and the treatment of epilepsy in elderly people., Journal Article, Practice Guideline, info:eu-repo/semantics/published

This report illustrates the usefulness and safety of very early hemispherotomy in an infant with Ohtahara syndrome (OS) secondary to left parieto-occipital megalencephaly. It provides evidence that surgical intervention might provide promising results in selected cases, and that young age is not a contraindication for this type of surgery.

Status epilepticus (SE) is a significant health problem, affecting approximately 1,000 to 4,000 individuals per year in Belgium. A workshop was convened by a panel of neurologists from major Belgian centers to review the latest information relating to the definition, diagnosis and treatment of convulsive SE. The panelists sought to make recommendations for practising neurologists, but also primary care physicians and physicians in intensive care units when initiating emergency measures for patients with convulsive SE. As there is an association between prolonged seizures and a poor outcome, the importance of early (within the first 5 minutes of seizure onset) and aggressive treatment is to be stressed. In addition to general systemic support (airway, circulation), intravenous administration of the benzodiazepines lorazepam or diazepam is recommended as first-line therapy. Intramuscular midazolam may also be used. If SE persists, second-line drugs include phenytoin or valproate, and third-line drugs the barbiturate phenobarbital, the benzodiazepine midazolam, or the anaesthetics thiopental or propofol, or eventually ketamine. If the patient does not recover after therapy, monitoring of seizures should involve an electroencephalogram to avoid overlooking persistence of clinically silent SE. As a general rule, the intensity of the treatment should reflect the risk to the patient from SE, and drugs likely to depress respiration and blood pressure should initially be avoided. If initial treatment with a benzodiazepine fails to control seizures, the patient must be referred to the emergency unit and a neurologist should be contacted immediately., SCOPUS: re.j, info:eu-repo/semantics/published

This report illustrates the usefulness and safety of very early hemispherotomy in an infant with Ohtahara syndrome (OS) secondary to left parieto-occipital megalencephaly. It provides evidence that surgical intervention might provide promising results in selected cases, and that young age is not a contraindication for this type of surgery. © 2005 BEA Trading Ltd. Published by Elsevier Ltd. All rights reserved., SCOPUS: ar.j, info:eu-repo/semantics/published

Epilepsy and psychiatric diseases are frequent comorbidities. Psychoses in patients with epilepsy have special physiopathology and several clinical presentations and prognoses. Their treatments are also specific, according to the specific diagnosis. This paper represents the summary of a consensus meeting held in November 2003 by a Belgian French-speaking group of neurologists, neuropediatricians and psychiatrists and proposes guidelines for the recognition and treatment of those entities., SCOPUS: ar.j, info:eu-repo/semantics/published

In many circumstances antiepileptic drugs are used in patients who have never presented any clinical epileptic seizures. These substances are administered on the assumption of a potential risk for the patients of developing acute or delayed chronic seizures after brain injuries such as trauma, stroke, hemorrages or even neurosurgical interventions. The aim of this paper is to propose therapeutic guidelines for the management of this prophylactic attitude in epilepsy based on basic research and clinical practice in the French community in Belgium. We will distinguish between the prevention of acute (early onset-provoked) seizures and a delayed truly post-lesional (unprovoked) epilepsy. Some therapeutic goals can be achieved under the former circumstances whereas in the latter situation we all agree for the absence of any coherent antiepileptic prophylactic behaviour., Consensus Development Conference, Journal Article, Review, info:eu-repo/semantics/published

Women with epilepsy (WWE) have an increased risk of complications during pregnancy, which however can be minimized by optimal, interdisciplinary patient management. The aim of any therapy is to achieve an optimal balance between avoidance of seizures, which may be harmful to both mother and foetus, and minimization of foetal and neonatal exposure to deleterious influences of antiepileptic drugs. Suitable measures include early and regular counselling of the young WWE about contraception and planning of pregnancy, optimisation of drug treatment (choice of the right drug and dosage also in view of altered pharmacokinetics, avoidance of polytherapy, therapeutic drug monitoring etc.), in-time folate substitution, and close follow-up of the patient during and after pregnancy. Until now, many issues such as underlying factors of malformations have not been clearly elucidated. Nonetheless, chances for an unproblematic pregnancy of WWE are high.

Women with epilepsy (WWE) have an increased risk of complications during pregnancy, which however can be minimized by optimal, interdisciplinary patient management. The aim of any therapy is to achieve an optimal balance between avoidance of seizures, which may be harmful to both mother and foetus, and minimization of foetal and neonatal exposure to deleterious influences of antiepileptic drugs. Suitable measures include early and regular counselling of the young WWE about contraception and planning of pregnancy, optimisation of drug treatment (choice of the right drug and dosage also in view of altered pharmacokinetics, avoidance of polytherapy, therapeutic drug monitoring etc.), in-time folate substitution, and close follow-up of the patient during and after pregnancy. Until now, many issues such as underlying factors of malformations have not been clearly elucidated. Nonetheless, chances for an unproblematic pregnancy of WWE are high., SCOPUS: ar.j, info:eu-repo/semantics/published

Approximately 20% of people with epilepsy are of childbearing potential and about 3 to 5 births per thousand will be to women with epilepsy. Both epilepsy and antiepileptic drugs can cause specific problems in women and embryos (less than 8 weeks of gestational age) or foetuses (more than 8 weeks of gestational age). The aim of this paper is to discuss therapeutic issues for the management of women with epilepsy: initiation of antiepileptic therapy, contraception, pregnancy, breast feeding and menopause. Some fertility issues are also discussed., Guideline, Journal Article, Practice Guideline, SCOPUS: re.j, info:eu-repo/semantics/published

The clinical differentiation between epileptic seizures (ES) and non-epileptic seizures (NES) is often difficult and mostly based on the presence or absence of widely recognized features of ES such as tongue biting, falling, incontinence or concomitant epileptic abnormalities in the electroencephalogram (EEG). We retrospectively analysed the records of all patients referred to our Epilepsy Centre for refractory epilepsy and finally diagnosed with NES between 1980 and 1999 ( n= 103), half of them also exhibiting ES. The mean time-lapse between first attack and NES diagnosis was 8.7 +/- 1.3 years and 16.5 +/- 1.4 years for the NES and NES + ES groups respectively. At least one of the usual signs associated with generalized tonic-clonic seizures (tongue biting, falling or incontinence) was reported by 66% and 60% of patients with NES or NES + ES respectively. Interictal EEG abnormalities were recorded in 16% of NES patients vs. 80% of NES + ES patients. In the NES group, delay before establishing the correct diagnosis was significantly longer when the patients exhibited > or =1 symptom(s) of generalized seizures, or when patients exhibited interictal EEG abnormalities. Upon admission, 72% of NES patients and all NES + ES patients were being treated with antiepileptic drugs (AEDs).We conclude that EEG or clinical abnormalities suggestive of epileptic seizures are common in undiagnosed NES patients. Such diagnostic pitfalls, besides considerably delaying NES diagnosis, also considerably delay appropriate treatment implementation.

The choice of treatment of newly diagnosed epilepsy involves many factors such as age, sex, life style, general health and concomitant medication. The seizure type, syndrome, and the pharmacology, efficacy and safety of the antiepileptic drugs (AEDs) should also be considered. Some of the new AEDs appear to provide at least equivalent efficacy with better tolerability. Some of these drugs have the potential to become drugs of first choice in newly diagnosed epilepsy. At the present time, we also must consider the criteria of reimbursement of these drugs. In this paper, we try to describe common and practical strategies to start a treatment of newly diagnosed epilepsy., Guideline, Journal Article, Practice Guideline, info:eu-repo/semantics/published

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