Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

1. Puberty and adolescence mainly can have a bad effect on idiopathic generalized epilepsies. This can show up in the first onset of seizures in adolescence, e.g. as a form of idiopathic grand mal on awakening, juvenile absence epilepsy or juvenile myoclonic epilepsy (impulsive petit mal). Also, already diagnosed absence epilepsy can become worse, e.g. by recurring absence seizures or grand mal seizures or the new onset of grand mal on awakening. 2. Exogenous factors, like changing the time of sleeping and waking, lack of sleep and the abuse of alcohol, play an important role in these types of epilepsy. Cutting out these factors is just as important as the consequent drug treatment on a longterm basis. 3. Drug treatment of idiopathic generalized epilepsy will be done with valproate, barbiturates and ethosuximide. Regarding fatal complications of liver function, which are more frequent than previously thought of, valproate can be recommended as a drug of first choice, especially in early childhood and when a combination of drugs is used. 4. A very good effect of adolescence is seen in children with benign idiopathic focal epilepsy with a centro-temporal spike focus. Antiepileptic treatment with carbamazepine as an agent of first choice can be done less vigorously. 5. Menstruation usually only modifies but does not worsen the natural course of epilepsy. There is still no real therapeutical plan for this rare form of epilepsy. 6. It cannot be a general rule, not to change current medical treatment before or during puberty in order to avoid any worsening of seizures. A decision always has to be made regarding the form of epilepsy and the individual situation, which has to be discussed with the patient and perhaps his family.
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PMID:[Epilepsies in puberty and adolescence. Follow-up and drug therapy]. 245 60

The present study classified epilepsies in Nigerians and compared them with the profile of epilepsies as found in other countries: India, France, and Denmark. Partial epilepsy formed the largest group (76.6%) in this study and in that in India (80%), but these incidences were higher than that found in France (62%), owing to a higher frequency of birth injury, CNS infections, and childhood febrile convulsions in developing countries. In contrast to our study and that in France, where partial epilepsy with complex symptomatology formed the largest subgroup, partial epilepsy with elementary symptomatology formed the largest subgroup in India. The reason for this is not totally clear, though etiological factors and criteria for categorization are contributory. The incidence of partial epilepsy was lower in children than in adults owing to a relatively lower incidence of partial epilepsy with elementary symptomatology in children in the present series and a lower incidence of complex symptomatology in children in France and Denmark. Nigerian children seem more vulnerable to complex symptomatology owing to a high incidence of febrile illness (e.g., from malaria) and febrile convulsions. The incidence of generalized epilepsies in children was higher than in adults. Grand mal formed the largest subgroup of generalized epilepsies in children in this series and in Denmark, whereas petit mal formed the largest subgroup in France and India. Petit mal was relatively rare in children in our series (2.5%) compared with children in the French study (17.5%). Secondary generalized epilepsy was peculiar to children in all the series.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Classification of the epilepsies: an investigation of 945 patients in a developing country. 392 51

Successful drug therapy for symptomatic focal epilepsy is often difficult to achieve. The aim of our study was to determine predictors of seizure-free versus therapy-resistant courses of epilepsy. To accomplish this, we evaluated clinical data obtained early in the course of focal symptomatic epilepsy to determine which factors best determine the probability of therapeutic success. This retrospective study included 70 patients who were treated at the Neurology Clinic, University of Greifswald, between 1984 and 1992. Inclusion criteria were: Clear clinical diagnosis, a minimum of 3 years follow up in our epilepsy outpatient clinic, therapy with standard anticonvulsant drugs, and good compliance. We distinguished between patients who were seizure-free for at least two years and those who were not. 22 patients (31.4%) were seizure-free, whereas 48 patients (68.6%) remained resistant to pharmacotherapy. Prognostic factors for seizure-free outcome were: Focal grand mal seizures as the only seizure type ever experienced by the patient, the occurrence of only one type of seizures during the course of the illness, the occurrence of only nocturnal seizures, few grand mal seizures before starting an effective anticonvulsant therapy, no previous status epilepticus, and the remission of focal epileptic EEG patterns during effective drug therapy.
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PMID:[Prognostic factors and clinical outcome in symptomatic focal epilepsies]. 905 91

Some forms of focal epilepsy, including temporal lobe epilepsy, are rarely associated with ictal bradycardia and sinus node arrest. We report a case of a previously healthy man presenting with syncope in whom telemetry revealed sinus arrest. Initial treatment was with permanent pacemaker implantation and it was only following a subsequent grand mal seizure that other symptoms suggestive of temporal lobe epilepsy were documented. Anti-epileptic medication was subsequently commenced with resolution of all symptoms. There are few previously reported cases of syncope and documented sinus node arrest as the presenting feature of temporal lobe epilepsy.
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PMID:Pause for thought? Syncope and sinus arrest as the presenting feature of temporal lobe epilepsy. 2494 May 68

Prader-Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patients. The aim of this study is to describe seizure types, electroencephalographic patterns and long-term seizure outcome in Prader-Willi syndrome patients suffering from epilepsy. We retrospectively studied 38 patients with Prader-Willi syndrome and seizures. Results of neuroimaging studies were obtained for 35 individuals. We subdivided these patients into two groups: group A, 24 patients, without brain lesions; and group B, 11 patients, with brain abnormalities. All patients were re-evaluated after a period of at least 10 years. Twenty-one patients (55.2 %) were affected by generalized epilepsy and 17 patients (44.8 %) presented focal epilepsy. The most common seizure type was generalized tonic-clonic seizure. The mean age at seizure onset was 4.5 years (ranged from 1 month to 14 years). In the follow-up period, seizure freedom was achieved in 32 patients (84.2 %). Seizure freedom was associated with electroencephalographic normalization, while the six children presenting drug-resistant epilepsy showed persistence of electroencephalographic abnormalities. Group B patients showed a higher prevalence of drug-resistant epilepsy. Patients with Prader-Willi syndrome were frequently affected by generalized seizures. Most of the patients had a favorable evolution, although, patients with brain abnormalities presented a worse outcome, suggesting that the presence of these lesions can influence the response to antiepileptic therapy.
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PMID:Long-term outcome of epilepsy in patients with Prader-Willi syndrome. 2542 30

Cardiopulmonary complications associated with epilepsy are generally associated with generalized tonic-clonic seizures, as a consequence of systemic adrenergic discharge and release of inflammatory mediators. We present a case of a 34-year-old woman with a history of Focal epilepsy since adolescence, who presented self-limited pulmonary edema following a focal to bilateral tonic-clonic seizure with subsequent resolution of the symptoms. We also made a brief review of neurogenic pulmonary edema, its proposed pathophysiology, treatment and its relation with sudden unexpected death in epilepsy (SUDEP).
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PMID:Postictal neurogenic pulmonary edema: Case report and brief literature review. 2969 72

Smartphones and other personal electronic devices present novel cortical processing tasks with potential for identification of novel EEG waveforms. A 17-year-old patient with epilepsy manifested as recurrent myoclonic seizures, absence seizures, and a single generalized tonic-clonic seizure was hospitalized to undergo video-EEG monitoring for seizure quantification and classification of the epilepsy syndrome. During the monitoring session, a frontocentral predominant 5 to 6 Hz theta rhythm was identified only when the patient was actively texting or playing a video game on his smartphone. Previously, patients with focal epilepsy have been found to have a frontocentral theta rhythm on EEG while texting on mobile devices. We report similar EEG findings in a patient with genetic generalized epilepsy during smartphone gaming to expand the population and triggers for this theta waveform. Given the young age and type of epilepsy, we suggest that the waveform represents the EEG manifestation of the attention-visuomotor pathway that is stimulus independent.
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PMID:Video Game-Induced Theta Rhythm. 3149 Apr 53

Epilepsy, a neurological disease characterized by recurrent seizures, is highly heterogeneous in nature. Based on the prevalence, epilepsy is classified into two types: common and rare epilepsies. Common epilepsies affecting nearly 95% people with epilepsy, comprise generalized epilepsy which encompass idiopathic generalized epilepsy like childhood absence epilepsy, juvenile myoclonic epilepsy, juvenile absence epilepsy and epilepsy with generalized tonic-clonic seizure on awakening and focal epilepsy like temporal lobe epilepsy and cryptogenic focal epilepsy. In 70% of the epilepsy cases, genetic factors are responsible either as single genetic variant in rare epilepsies or multiple genetic variants acting along with different environmental factors as in common epilepsies. Genetic testing and precision treatment have been developed for a few rare epilepsies and is lacking for common epilepsies due to their complex nature of inheritance. Precision medicine for common epilepsies require a panoramic approach that incorporates polygenic background and other non-genetic factors like microbiome, diet, age at disease onset, optimal time for treatment and other lifestyle factors which influence seizure threshold. This review aims to comprehensively present a state-of-art review of all the genes and their genetic variants that are associated with all common epilepsy subtypes. It also encompasses the basis of these genes in the epileptogenesis. Here, we discussed the current status of the common epilepsy genetics and address the clinical application so far on evidence-based markers in prognosis, diagnosis, and treatment management. In addition, we assessed the diagnostic predictability of a few genetic markers used for disease risk prediction in individuals. A combination of deeper endo-phenotyping including pharmaco-response data, electro-clinical imaging, and other clinical measurements along with genetics may be used to diagnose common epilepsies and this marks a step ahead in precision medicine in common epilepsies management.
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PMID:Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment. 3309 46

Following publication in 2014 of the International League Against Epilepsy (ILAE) official report changing the definition of epilepsy, a number of questions remain unresolved in regard to deciding when to start treatment and to the choice of a particular antiseizure medication (ASM). This study uses a Delphi method to update consensus among a panel of experts on the initiation of epilepsy treatment in order to provide insight regarding those questions. The study was undertaken in four phases. Firstly, a multi-center steering committee met to review relevant bibliography and to draft a questionnaire. Secondly, a panel of neurologists specialized in epilepsy was selected and convened. Thirdly, an online survey was carried out in two rounds. Fourthly, the final results were discussed at a face-to-face meeting of the steering committee to draw conclusions. The final questionnaire focused on three independent sections: the decision to commence ASM in different clinical situations, the choice of initial monotherapy depending on the type of epilepsy and the patient's age/sex (including childbearing potential), and the choice of initial monotherapy depending on comorbidity. In these two latter sections, fourteen ASMs approved for monotherapy use by the EMA and available in Spain were considered. Regarding the decision as to when to commence treatment, the results show agreement exists to initiate treatment following a first generalized tonic-clonic seizure or a focal seizure if the electroencephalography (EEG) reveals epileptiform activity, if the MRI reveals a lesion, or when it occurs in elderly patients. With respect to the choice of initial monotherapy depending on the type of epilepsy and the patient's age/sex profile, it is agreed to avoid valproic acid (VPA) in women with childbearing potential, with levetiracetam (LEV) and lamotrigine (LTG) being the preferable options in generalized epilepsy. In focal epilepsy, the options are broader, particularly in men, and include the most recent ASMs approved for monotherapy. In the elderly, LEV, lacosamide (LCM), eslicarbazepine acetate (ESL) and LTG are considered the most suitable drugs for initiating treatment. With regard to comorbidities, the recommendation is to avoid enzyme inducing ASMs, with LEV, the most recent ASMs approved for monotherapy and LTG being the preferred options. In conclusion, as the ILAE definition states, there are different situations that lead to treatment initiation after a first seizure. When choosing the first ASM, the type of epilepsy, childbearing potential and drug-drug interaction are key factors.
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PMID:Initiating antiepilepsy treatment: An update of expert consensus in Spain. 3324 87