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)

Forty-nine children and adolescents whose seizures reportedly worsened while receiving carbamazepine (CBZ) were studied retrospectively. Twenty-six patients met criteria for excellent documentation of carbamazepine-exacerbated seizures. Four epileptic syndromes were particularly affected: childhood absence epilepsy; focal symptomatic, frontal lobe epilepsy; Lennox-Gastaut syndrome; and severe myoclonic epilepsy of infancy. Eight of the 26 patients developed new-onset absence seizures and three patients with established absence epilepsy experienced absence status. Other seizure types, including atonic, tonic-clonic, and myoclonic, developed in eight patients treated with CBZ, and new generalized spike-and-wave discharges were observed in electroencephalograms of nine patients. CBZ is a widely used, effective antiepileptic drug, particularly for partial or partial complex seizures; however, if uncontrolled, generalized seizures occur after CBZ is prescribed for children or adolescents with absence or mixed seizures, a trial of CBZ discontinuation is warranted. The data reported here do not permit calculation of the incidence of this phenomenon.
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PMID:Carbamazepine-exacerbated epilepsy in children and adolescents. 350 8

The authors have followed six children with atypical epilepsies but a favorable evolution, consisting in minor motor seizures of the myoclonic-astatic type (with diffuse slow spike-waves on the electroencephalogram) together with clinical and EEG features seen in benign focal epilepsy of childhood (BFEC), an association recently reported by Aicardi and Chevrie (1982). The maintenance of a normal neurological function despite severe epilepsy, the absence of tonic seizures and the marked activation of the spike discharges during sleep were described by these authors as important characteristics suggesting a good prognosis. The purpose of this study was to see if these children indeed represent a particular subgroup of idiopathic epilepsy and to draw attention to a special clinical and EEG combination indicating a possibly favorable ultimate outcome, in children usually diagnosed as suffering from Lennox-Gastaut syndrome. The six cases closely resembled the group described by Aicardi and Chevrie (1982), although the clinical and EEG features of BFEC were not as striking as in their cases. Also transient mental deterioration occurred during the active seizure periods. The therapeutic benefit of the various drugs tried was difficult to assess, but the behavior was often perturbed by medication. Although it is not possible to decide at the present time if these cases represent a particular epileptic syndrome, the special combination of clinical and EEG features seems characteristic enough to justify prospective studies of similar cases in the future.
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PMID:Combined myoclonic-astatic and "benign" focal epilepsy of childhood ("atypical benign partial epilepsy of childhood"). A separate syndrome? 376 71

Benign occipital epilepsy of childhood is an idiopathic partial epilepsy syndrome with elementary visual symptomatology, frequently associated with other ictal phenomena. Seizures are usually followed by postictal headache and are often associated with interictal occipital rhythmic paroxysmal EEG activity that appears only after eye closure. In some children the ictal visual symptoms or the interictal EEG abnormalities may not be demonstrated. The clinical and/or EEG manifestations of other forms of idiopathic partial or generalized epilepsy may be found in association. Occipital spikes in non-epileptic children with defective vision, occipital slow spike-and-wave found in some patients with the Lennox-Gastaut syndrome, focal epilepsy due to occipital lesions, seizures originating in the temporal lobe secondary to an occipital abnormality, and complicated or basilar migraine must be considered in the differential diagnosis. Early-onset benign occipital epilepsy or seizure susceptibility syndrome deserves to be considered separately. It has been defined by Panayiotopoulos as consisting of brief, infrequent attacks or prolonged status epilepticus and characterized by ictal deviation of the eyes and/or head and vomiting, occurring in children usually between the ages of 3 and 7 years. Advances in molecular genetics will help decide whether these two disorders are indeed distinct. Benign occipital and benign rolandic epilepsy are commonly associated with migraine. The selective involvement of the occipital lobe in migraine has not been fully explained. The association between benign occipital epilepsy and migraine is likely related to this underlying mechanism as well. The "fixation off" phenomenon or blocking of occipital epileptic discharges by eye opening is not specific to benign occipital epilepsy of childhood and may be found in symptomatic epilepsies as well. Migraine and epilepsy are distinct disorders, both as far as their pathophysiologic mechanisms and clinical symptomatology are concerned. There is however an overlap in some patients and a causal relationship may exist in some, leading to clinically distinct migraine epilepsy syndromes. Here too, clarification of the molecular basis of migraine and of epilepsy will throw light on the nature of the relationship between the two conditions.
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PMID:The benign occipital epilepsies of childhood: an overview of the idiopathic syndromes and of the relationship to migraine. 1048

We reviewed the epileptogenic cortical malformations for which a causative gene has been cloned or a linkage obtained. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in female patients and prenatal lethality in most males. About 90% of patients have focal epilepsy. Filamin A mutations have been reported in all families and in approximately 20% of sporadic patients. A rare recessive form of BPNH also has been reported. Most cases of lissencephaly-pachygyria are caused by mutations of LIS1 and XLIS genes. LIS1 mutations cause a more severe malformation posteriorly. Most children have isolated lissencephaly, with severe developmental delay and infantile spasms, but milder phenotypes have been recorded. XLIS usually causes anteriorly predominant lissencephaly in male patients and subcortical band heterotopia (SBH) in female patients. Thickness of the band and severity of pachygyria correlate with the likelihood of developing Lennox-Gastaut syndrome. Mutations of the coding region of XLIS are found in all reported pedigrees and in 50% of sporadic female patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia; accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the RELN gene. Schizencephaly has a wide anatomoclinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Initial reports of heterozygous mutations in the EMX2 gene need confirmation. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to Xq28 in some pedigrees, autosomal recessive inheritance in others, and association with 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy, often Lennox-Gastaut syndrome. Recessive bilateral frontal polymicrogyria has been linked to chromosome 16q12.2-21.
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PMID:Genetic malformations of the cerebral cortex and epilepsy. 1581 77

Vagus nerve stimulation (VNS) is a nonpharmacologic therapeutic option for patients with intractable epilepsy. Better clinical outcomes were recorded in nonfocal and Lennox-Gastaut syndrome (LGS). We conducted a 2-year, open label, prospective study to measure the seizure outcome of 26 VNS patients. The seizure numbers were assessed using clinician's global impression scale (CGI) and patient diaries. The average seizure reduction was 23% at the first year and 22% at the second year. Seizure reduction was more pronounced among patients with nonfocal than with focal epilepsy. The response rate was 50% at first year and 30% at the second year. The best CGI record for clinically significant improvement was 15% in the LGS group. The only statistically significant result was the reduction of the generalized tonic-clonic seizures (GTCS). The side-effect profile was good; however, the large number of mild and reversible effects influenced the stimulation parameters and thus probably the effectiveness of the therapy. We suggest that VNS is an optional treatment mostly in cases of therapy-resistant Lennox-Gastaut syndrome. Patients with GTCS may experience improvement such as reduction of seizure severity. We conclude that VNS is a safe neuromodulatory treatment, but future developments of neuromodulatory approaches are needed.
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PMID:Outcome of vagus nerve stimulation for epilepsy in Budapest. 2061 11

We conducted a Japanese Expert Consensus (EC) study for the treatment of childhood epilepsies following the method reported from the USA and EU (Wheless JW, et al., 2005, 2007), and compared the results to reveal differences in the choice of antiepileptic drugs (AEDs). The subjects were 41 pediatric board-certified epileptologists who responded to the 23 questionnaires. A 9-point scale was used to grade each AED, in which 9 was the best whereas 1 was the worst for appropriateness of choice for each epileptic syndrome. Lamotrigine (LTG) is frequently used for idiopathic generalized epilepsy except for valproate sodium (VPA) in both the USA and EU, while VPA and clonazepam were the main AEDs in Japan. For cryptogenic complex partial epilepsy and benign focal epilepsy, carbamazepine was a first-line AED among the USA, EU, and Japan, although other first-line AEDs were oxcarbamazepine (OCBZ), LTG, and levetiracetam (LEV) in both the USA and EU, while it was zonisamide in Japan. Regarding the treatment for symptomatic generalized epilepsy, West syndrome and Lennox-Gastaut syndrome, VPA and ACTH were first-line AEDs commonly used in the USA, EU, and Japan, while the other first-line AEDs were topiramate (TPM) and LTG in the USA and EU, and CZP and clobazam in Japan. This Japanese EC study demonstrated the difference in the selection of AEDs for epileptic syndromes between the USA and EU, which use more newly-introduced AEDs including TPM, LTG, OCBZ and LEV as first-and second-line AEDs, and Japan.
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PMID:[Treatment of childhood epilepsies: Japanese Expert Consensus study and a comparison of the results with those of the USA and EU]. 2066 30

Precise identification of epileptogenic zones in patients with intractable drug-resistant epilepsy is critical for successful epilepsy surgery. Numerous source-imaging algorithms for localizing epileptogenic zones based on scalp electroencephalography (EEG) and magnetoencephalography (MEG) have been developed and validated in simulation and experimental studies. Recently, intracranial EEG (iEEG)-based imaging of epileptogenic sources has attracted interest as a promising tool for presurgical evaluation of epilepsy; however, most iEEG studies have focused on localization of epileptogenic zones in focal epilepsy. In the present study, we investigated whether iEEG source imaging is a useful supplementary tool for identifying extended epileptogenic sources in secondary generalized epilepsy such as Lennox-Gastaut syndrome (LGS). To this end, we applied four different cortical source imaging algorithms, namely minimum norm estimation (MNE), low-resolution electromagnetic tomography (LORETA), standardized LORETA (sLORETA), and L(p)-norm estimation (p = 1.5, referred to as Lp1.5), to artificial iEEG datasets generated assuming various source sizes and locations. We also applied these four algorithms to clinical ictal iEEG recordings acquired from a pediatric patient with LGS. Interestingly, the traditional MNE algorithm outperformed the other imaging algorithms in most of our experiments, particularly in cases when larger-sized sources were activated. Although sLORETA outperformed both LORETA and Lp1.5, its performance was not as good as that of MNE. Compared to the other algorithms, the performance of Lp1.5 decayed most rapidly as the source size increased. Our findings suggest that iEEG source imaging using MNE is a promising auxiliary tool for the identification of epileptogenic zones in secondary generalized epilepsy. We anticipate that our results will provide useful guidelines for selection of an appropriate imaging algorithm for iEEG source imaging studies.
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PMID:Evaluation of algorithms for intracranial EEG (iEEG) source imaging of extended sources: feasibility of using iEEG source imaging for localizing epileptogenic zones in secondary generalized epilepsy. 2136 9

Neuroscientists are becoming interested in the application of computational EEG analysis to the identification of ictal onset zones, however, most studies have focused on the localization of ictal onset zones in focal epilepsy. The present study aimed to estimate the ictal onset zone of Lennox-Gastaut syndrome (LGS) with bilaterally synchronous epileptiform discharges from intracranial electroencephalography (iEEG) recordings using directional connectivity analysis. We analyzed ictal iEEG data acquired from three patients with LGS. To identify the ictal onset zones, we estimated the functional directional connectivity network among the intracerebral electrodes using the directed transfer function (DTF) method. The analysis results demonstrated that areas with high average outflow values corresponded well with the surgical resection areas identified using electrophysiologic data and conventional neuroimaging modalities. Our results suggest that the DTF analysis can be a useful auxiliary tool for determining surgical resection areas prior to epilepsy surgery in LGS patients.
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PMID:Localization of ictal onset zones in Lennox-Gastaut syndrome using directed transfer function method. 2225 66

We studied 1036 children with epileptic seizures, aged from 1 to 18 years, during 2004-2008. One hundred and six patients were diagnosed with idiopathic focal epilepsy (IFE). The following forms of IFE were singled out: benign seizures of infancy (familial and non-familial) - Watanabe--Vigevano syndrome - 5,7%, occipital epilepsy of childhood with early manifestation (Panayiotopoulos syndrome) -26,4%, occipital epilepsy of childhood with late manifestation (Gastaut syndrome) - 12,3%, benign epilepsy of childhood with central-temporal spikes (rolandic epilepsy) - 51%, benign focal epilepsy with affective symptoms - 4,7%. The efficacy of the first monotherapy was significantly worse in rolandic epilepsy compared to the other IFE forms. Prescription of valproate or the combination of valproate, ethosuximidum and levetiracetam, in case of resistant course, as a starting therapy was found optimal.
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PMID:[Idiopathic focal epilepsies of infancy and childhood]. 2261 73

Lacosamide is a US Food and Drug Administration (FDA)-approved antiepileptic drug for patients 17 years or older with partial epilepsy. There are sparse data on children. The objective of our study was to evaluate its efficacy/safety in children with refractory epilepsy. Forty children (mean age 14.3 years) were treated with lacosamide at our institution (adjunctive therapy in 36, monotherapy in 4). Fifteen patients had symptomatic focal epilepsy, 2 had cryptogenic focal epilepsy, 20 had symptomatic generalized epilepsy, and 3 had cryptogenic generalized epilepsy. Two had juvenile myoclonic epilepsy and 5 had Lennox-Gastaut syndrome. Forty-two percent had at least >50% reduction in seizure frequency, and 6 became seizure free. Average dose was 7 mg/kg/d and average follow-up was 9.2 months. Responders had a 76.5% mean decrease in seizures. Fifteen children experienced an adverse reaction and 7 discontinued lacosamide (4: Ineffective, I: insurance denial, 1: tremor, 1: behavior). Lacosamide is effective and well-tolerated in children with refractory epilepsy.
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PMID:Efficacy of lacosamide as adjunctive therapy in children with refractory epilepsy. 2314 18


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