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PubMed1996

Epilepsy in children.

Childhood epilepsies comprise a broad range of disorders which vary from benign to progressive and disabling. Accurate diagnosis of epilepsy type and determination of aetiology, when possible, are essential for appropriate treatment. The most common seizure type encountered in children is febrile seizures. These represent a benign condition which is not, in fact, epilepsy and usually does not require antiepileptic medication. When partial seizures occur in childhood, benign syndromes with spontaneous remission, such as rolandic epilepsy, must be distinguished from symptomatic epilepsies which may be refractory to medical management. Complex partial seizures in young children may appear different than in adults. The adverse effect profiles and dosing regimens of antiepileptic drugs in children are also different than in adults, and influence the choice of treatment. Epilepsy surgery should be considered for some children with intractible partial seizures. Generalized epilepsies also have a broader spectrum in children. The idiopathic generalized absence epilepsies are usually easy to control with medication. They range from childhood absence epilepsy which tends to remit in adolescence to juvenile myoclonic epilepsy which is a lifelong condition. In contrast, the seizures of West syndrome and Lennox-Gastaut syndrome are difficult to control, and treatment involves therapeutic modalities rarely used in adults such as ACTH and the ketogenic diet. Many childhood epilepsy syndromes have a familial predisposition, and the genetic bases for several disorders have been described.

Anticonvulsants↗

PubMed1995

The nature of epilepsy in the general population. I. Characteristics of patients receiving medication for epilepsy.

The study is a community-based study carried out in the UK to determine the characteristics of patients receiving treatment for epilepsy, with particular reference to the duration, nature and severity of epilepsy. 119 participating general practitioners distributed questionnaires to 2528 patients taking medication for epilepsy. Information requested included the age and sex distribution of the patients, seizure type, duration of epilepsy and frequency of seizures, employment status of the patients, and state benefits received. 1628 patients replied. The prevalence of people receiving treatment for epilepsy was estimated at 4.5/1000. Fourteen per cent were under the age of 20 years and 23% were aged 60 or more. Seventy per cent had had epilepsy for at least 5 years, while 8% had been diagnosed in the previous year. Fifty-three per cent had had one or more seizures in the year prior to the survey, and 20% had seizures at least monthly on average. Most patients had seizures of partial origin. The rate of unemployment and receipt of social security benefits was higher than in the general population. The study indicates that the majority of patients receiving treatment for epilepsy in the community have long-standing epilepsy, often intractable to medical treatment, and associated with considerable social handicap. Health care planning should take this into account.

Adolescent↗

PubMed1999

Meeting the educational needs of general practitioners for epilepsy.

Epilepsy care in general practice has been criticized, but what do GPs feel they deal with most and complete satisfactorily? If criticism is justified, education should be useful in improving epilepsy care, but what do general practitioners want to learn and how do they want to learn it? Questionnaires about these issues were sent to randomly chosen general practitioners throughout the United Kingdom. One hundred and twenty-four out of 200 (62%) responded. They were not biased by age, sex, type of practice or previous interest in epilepsy. Drug treatment and regular review were the two areas of care GPs said they dealt with most, but only half felt they dealt with them well. Sixty-six percent wanted to learn more about drug treatment, 46% about lifestyle advice, 45% about non-drug treatment, 44% about diagnosis and only 16% did not want to learn more about any aspect of care. Weekdays and evenings were the preferred times for study. Courses up to one full day away from practices were popular, distance learning and personal education plans were not, except for a group of younger GPs. When attending courses multi-disciplinary lectures rated highly and nearly three-quarters preferred to attend courses where epilepsy was covered in conjunction with other conditions. Future epilepsy education for GPs should recognize these findings if attendance and positive outcomes are to be maximized.

Adult↗

PubMed1993

Juvenile myoclonic epilepsy.

Juvenile myoclonic epilepsy is a genetically transferred generalized epilepsy that affects approximately 7% of adolescents and adults with epilepsy. Juvenile myoclonic epilepsy always has a myoclonic component alone or in combination with generalized tonic-clonic seizure or absence seizure. The myoclonic component is most prominent on waking or in a drowsy state. The electroencephalogram may be normal between seizures. Life-long treatment with valproate is effective in more than 80% of patients. The author describes the clinical features, diagnosis, and treatment of juvenile myoclonic epilepsy in a typical patient.

Adult↗

PubMed2001

Conversational repair in pediatric epilepsy.

This study examined if children with complex partial seizures disorder (CPS) and primary generalized epilepsy with absence (PGE) were impaired in the use of self-initiated repair during a conversation compared to normal children. Transcriptions of speech samples of 92 CPS, 51 PGE, and 65 normal children, ages 5-16 years, were coded for self-initiated repair according to Evans (1985). The WISC-R, a structured psychiatric interview, and seizure-related information were obtained for each child. We found impaired use of repair in both the CPS and PGE groups compared to the normal subjects. The CPS patients, particularly those with a temporal lobe focus, overused self-initiated corrections of referents and syntax compared to the PGE and normal subjects. The CPS and PGE patients with frontal lobe involvement underused fillers compared to the normal children. These findings provide additional evidence that both CPS and PGE impact the ongoing development of children's communication skills.

Adolescent↗

PubMed2006

Cognition-induced epilepsy associated with specific emotional precipitants.

A 32-year-old woman with primary generalized epilepsy described absence events precipitated by talking about childhood sexual abuse, her epilepsy, or her father's difficulties with schizophrenia. She was referred for assessment of suspected psychogenic nonepileptic events. During simultaneous video/EEG monitoring, 30 absence seizures were recorded, 28 of which occurred while discussing one of these three specific precipitants. No nonepileptic events were seen. This finding highlights the importance of thorough investigation of ambiguous events, and confirms that specific emotional precipitants can induce seizures in susceptible people with epilepsy.

Adult↗

PubMed2004

Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

Mutations in the alpha-subunit of the first neuronal sodium channel gene SCN1A have been described in isolated patients with severe myoclonic epilepsy in infancy or Dravet syndrome and in families with generalized epilepsy with febrile seizures plus. To find phenotype/genotype correlations, we reviewed all published cases of mutations in SCN1A in addition to four new patients reported here. A total of 60 mutations were observed. Approximately 52% (31/60) are truncating mutations correlating with de novo cases of classical Dravet syndrome in 32 of 34 (94%) patients. Missense mutations in the pore-forming part constitute 27% (16/60) and correspond to a classical type in 12 of 16 (75%) patients. Missense mutations in the voltage sensor were present in 12% (7/60) and correlate with a clinical picture ranging from febrile seizures plus to severe myoclonic epilepsy in infancy. Outside these regions missense mutations are rare and account for only 10% (6/60), corresponding mostly with febrile seizures plus. These results illustrate that the clinical spectrum of SCN1A mutations ranges from febrile seizures, febrile seizures plus, over a milder type to the classical form of severe myoclonic epilepsy in infancy, and confirm the clinical experience that severe myoclonic epilepsy in infancy is the most severe form on this spectrum.

Child↗

PubMed1999

Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14.

Juvenile myoclonic epilepsy (JME) is a genetically determined common subtype of idiopathic generalized epilepsy (IGE). Significant evidence for linkage has been reported for a susceptibility locus for JME in the chromosomal region 15q14 that harbors the gene encoding the alpha7 subunit of the neuronal nicotinic acetylcholine receptor (CHRNA7). The present study was designed to test the earlier linkage finding and to explore whether this susceptibility locus is involved in the epileptogenesis of a broader spectrum of IGE syndromes. Multipoint parametric and nonparametric linkage analyses with seven microsatellite polymorphisms encompassing the region of the CHRNA7 gene were performed using two diagnostic schemes of JME-related traits in two groups of multiplex families ascertained through probands with either JME (n = 27) or idiopathic absence epilepsy (n = 30). The present linkage study failed to replicate evidence for a major susceptibility locus for JME in the region encompassing the CHRNA7 gene. In addition, we found no hint in favor of linkage to 15q14 under the broad diagnostic scheme in any of the sets of families. If genetic variation in this region confers susceptibility to JME, then its effect size might be too small or its occurrence too rare to be detected in the investigated families.

Adolescent↗

PubMedDate not supplied

[Effect of phenytoin and carbamazepine on evoked potentials in patients with newly diagnosed epilepsy. Part I. Visual evoked potentials].

Pattern-reversal visual evoked potentials (VEPs) were recorded in 64 patients with newly diagnosed epilepsy. Before starting medication the patients with partial and primary generalized epilepsy, had prolonged latencies of the VEPs component P100, as compared with controls. VEPs were repeated after 3 months in 43 patients with focal epilepsy, during carbamazepine (22 cases) or phenytoin (21 cases) treatment. The plasma concentration of the drugs were within therapeutic levels. Carbamazepine but not phenytoin, was associated with prolongation of the P100 peak latency and induced increase of its amplitude, as compared with the baseline condition. The VEPs abnormality was most pronounced in patients whose seizures were poorly controlled. We conclude, that administration of carbamazepine or phenytoin, at therapeutic serum level, have minimal effect on the VEPs.

Adolescent↗

PubMed2006

Direct and indirect costs of refractory epilepsy in a tertiary epilepsy center in Germany.

PURPOSE: There are only few studies on the costs of epilepsy in Germany. Therefore, we performed a pilot study to estimate the direct and indirect costs of refractory epilepsy in a German epilepsy center. METHODS: A "prevalence-based," cross-sectional convenience sample of adults with active epilepsy attending the outpatient clinic of our tertiary epilepsy center was evaluated. Seizure-free patients and patients presenting with their first seizure were excluded. Direct and indirect costs were prospectively recorded over a three-month period using questionnaires and a patient diary. Cost driving factors were identified. RESULTS: One hundred one patients were included (40.7+/-15.2 years; disease duration: 18.1+/-15.3 years; 6 patients had focal epilepsy with simple partial seizures only, 28 with complex partial seizures, 43 with secondarily generalized tonic-clonic seizures; 20 had idiopathic generalized epilepsy with generalized tonic-clonic seizures). The total costs of epilepsy per patient were in average euro 2610+/-4200 over the three-month period. Direct cost contributed 39% to the total costs. Costs of anticonvulsant medication were the main contributor to the direct costs while indirect costs were caused mainly by losses due to early retirement. Cost driving factors included higher seizure frequency, longer disease duration, ictal falls, and situationally inappropriate complex behavior during or after the seizure. CONCLUSIONS: Indirect costs were higher than direct costs in adult patients with active epilepsy attending a German epilepsy center. Medication contributed the most to the direct costs and early retirement was the main factor for the indirect costs. The costs of poorly controlled epilepsy in this German study were above average of the European costs of epilepsy.

Adolescent↗

PubMed1992

Familial increase in plasma glutamic acid in epilepsy.

Plasma levels of glutamic acid and leukocyte glutamate dehydrogenase (GDH) activity were determined in patients with primary generalized epilepsy, patients with partial epilepsy and in the first-degree relatives of these subjects. The results show a significant increase in plasma glutamic acid in both groups of patients and their relatives compared to non-epileptic controls. The leukocyte GDH activity in the patients and the relatives was not different from controls. The data support a genetic basis for plasma glutamic acid increase in both primary generalized and partial epilepsy and are compatible with the multifactorial mode of inheritance of these disorders. This is the first study showing a familial plasma glutamic acid increase in epilepsy in a Japanese population.

Adolescent↗

PubMedDate not supplied

Seizure risk in offspring of parents with generalized versus partial epilepsy.

Genetic factors are commonly assumed to play a more important role in generalized than in partial epilepsy. This study tested this hypothesis by comparing risks of unprovoked seizures in offspring of individuals with generalized versus partial epilepsy. Overall, seizure incidence was no higher in offspring of persons with generalized epilepsy than in offspring of those with partial epilepsy. The number of affected offspring was about three times that expected from population incidence rates, regardless of whether the parent had partial or generalized epilepsy. For the subgroup of generalized cases with absence seizures, however, seizure incidence in offspring was about three times as high as for partial cases. The higher incidence in offspring of absence cases was only partly explained by a higher proportion of absence than partial cases with two factors associated with high risk in relatives, namely early age at onset and idiopathic epilepsy. Offspring of absence cases had higher risk than offspring of other cases not only for absence seizures, but for other seizure types as well, suggesting that absence epilepsy is not genetically distinct from other seizure types of epilepsy. These results suggest that the higher incidence sometimes observed in relatives of patients with generalized epilepsy is due to a small proportion of generalized cases with extremely high familial risks--most generalized epilepsies are no more likely than partial epilepsies to have a genetic basis.

Epilepsies, Partial↗

PubMed1993

Premonitory symptoms in epilepsy.

We studied premonitory symptoms in 128 patients with partial and 20 patients with primary generalized epilepsy. Sixty symptoms were reported by 43 (29%) patients, all of whom had partial seizure disorders (P < .01). Symptoms began at least 30 minutes before seizure onset, lasted 10 minutes to 3 days, and were continuous. Irritability, depression, headache, 'funny feeling', and confusion were the most common symptoms. Premonitory symptoms are a warning system in some patients and may permit therapeutic interventions.

Adolescent↗

PubMed1995

So-called "petit mal status": epileptic syndrome or seizure type?

In 1945, Lennox was the first to describe the epileptic states mainly expressed by various degrees of consciousness disturbance, which have their onset in children who present epileptic absences correlated with ictal EEG patterns of spike-wave complex discharges at about 3 Hz. As the clinical picture seemed to be similar to an uninterrupted series of absences, this led to the definition "Petit Mal Status" (PMS). Many authors have subsequently reported that PMS can occur in epileptic subjects who have never presented absences (and even in subjects without a previous history of epilepsy) and that the related EEG pictures were characterised by paroxysmal generalized activity of various morphology, but hardly ever consisted of the continuous rhythmic spike-wave or polyspike-wave complexes at 3 Hz found in petit mal absences. Finally, in reporting the onset and recurrence of this condition typically in adults and the elderly, some authors have proposed the existence of a particular form of PMS (dependent on different types of pathologic factors and characterising a specific syndrome of this age) that is different from that of the "real PMS" typical of childhood and related to petit mal absences. This paper describes fifteen patients in whom the onset of the condition occurred at different ages, and who seem to exemplify the various possible clinical expressions of PMS, with the aim of making a contribution towards the better nosographic definition of this epileptic condition. On the basis of our study, we sustain that the so-called PMS is a seizure type of Idiopathic Generalized Epilepsy which may appear at nearly all ages, and may occur in isolation or in association with other epileptic manifestations, but cannot itself be considered as characterising one or more age-dependent syndromes.

Adolescent↗

PubMed2001

Ictal single photon emission computed tomography in absence seizures: apparent implication of different neuronal mechanisms.

Absence seizures represent a complex group of epilepsy, characterized by lapse of consciousness with staring. Bilateral, synchronous, and symmetric bursts of 3-Hz spike-and-wave discharges are observed on the electroencephalogram, whereas interictal background activity is normal. This kind of epilepsy has to be differentiated from other generalized epilepsies such as juvenile absence epilepsy and juvenile myoclonic epilepsy. Moreover, absence seizures, together with generalized spike-and-wave discharges, may coexist with other types of epilepsy such as frontal lobe epilepsy, temporal lobe epilepsy, benign epilepsy with centrotemporal spikes, and childhood epilepsy with occipital paroxysms. We have carried out ictal single photon emission computed tomography (SPECT) in 10 patients with clinical evidence of absence seizures with the aim to better understand and to distinguish this kind of seizure as primarily or secondarily generalized to a specific area and to obtain more information on the neuronal mechanisms involved in the different types of seizures, usually not identifiable at the first appearance. During the long follow-up period (9 months to 14 years), 7 of the 10 examined patients underwent interictal SPECT when they became seizure free. Our data permitted, in two patients, the diagnosis of childhood absence seizures; in three patients, they suggested the possibility of later appearance of other seizure types, on the basis of focal hyperperfusion indicating a possible focal firing. In three of the examined patients, the diagnosis of idiopathic localization-related epilepsies mimicking childhood absence seizures could be performed. In the last two patients, the hypothesis of a coexistence of absences with partial and generalized seizures was considered. From our results, it can be presumed that ictal SPECT findings may contribute to the physiopathologic classification of the different types of epilepsies. Moreover, anticonvulsant treatment more appropriate to the different forms of seizures can be used.

Adolescent↗

PubMed1996

Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy.

Juvenile myoclonic epilepsy is a common type of idiopathic generalized epilepsy characterized by myoclonic, generalized tonic-clonic, and in 30% of patients, absence seizures. We studied a three-generation pedigree of 33 members, 10 of whom were clinically affected with juvenile myoclonic epilepsy or presented with subclinical electroencephalographic (EEG) 3.5- to 6.0-Hz diffuse polyspike-wave or spike-wave complexes. Juvenile myoclonic epilepsy and the EEG trait segregated as an autosomal dominant trait with 70% penetrance. Linkage analysis using this model showed significant linkage to four microsatellite markers centromeric to human leukocyte antigen (HLA) in chromosome 6p. Maximum lod scores of 3.43 at theta(m=f)=0.00 for D6S272, D6S466, D6S257, and D6S402 were obtained. Recombinant events in 2 affected members defined the gene region to a 43-cM interval flanked by D6S258 (HLA region) and D6S313 (centromere). Our results in this large family provide evidence that a gene responsible for juvenile myoclonic epilepsy and the subclinical, 3.5- to 6.0-Hz, polyspike-wave or spike-wave EEG pattern is located in chromosome 6p.

Adolescent↗

PubMed2002

Psychiatric aspects of self-induced epileptic seizures.

OBJECTIVE: To review the literature on self-induced epileptic seizures and apply psychiatric knowledge to define possible causes and treatment recommendations. METHODS: A review of MEDLINE literature on self-induced epileptic seizures was conducted, followed by cross-referencing with the relevant neurologic, psychiatric and paediatric books and journals. RESULTS: The reported prevalence of self-induction varies depending on the setting. In most instances, self-inducers are people affected by photosensitive primary generalized epilepsy, in whom self-induction is by intermittent photic stimulation or, more rarely, pattern stimulation or eye closure. Self-induced seizures are most commonly absences with spike-wave, though eyelid myoclonia and generalized myoclonic jerks occur. Earlier studies indicate that the majority of self-inducers were of subnormal intelligence but more recent ones indicate that as a group they could not be considered mentally retarded. Monitoring in a well-lit environment is indicated in any therapy-resistant photosensitive patient to determine whether or not self-induction occurs. Self-induced epilepsy is notoriously resistant to therapy and reasons for this resistance are discussed. An explanatory model for the initiation and maintenance of self-induction behaviour is also included. CONCLUSIONS: It is difficult to determine from published papers just what level of clinical difficulty self-induction of seizures actually posed to the patients and clinicians. In some cases there is contradictory evidence as to the degree of willfulness or self-induction. Self-induced epileptic seizures may be an important aspect of poor seizure control in a subgroup of epilepsy sufferers. These seizures might be modifiable by psychiatric intervention or behavioural modification.

Adaptation, Psychological↗

PubMed1998

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.

Epileptic disorders affect about 20-40 million people worldwide, and 40% of these are idiopathic generalized epilepsies (IGEs; ref. 1). Most of the IGEs that are inherited are complex, multigenic diseases. To address basic mechanisms for epilepsies, we have focused on one well-defined class of IGEs with an autosomal-dominant mode of inheritance: the benign familial neonatal convulsions (BFNC; refs 2,3). Genetic heterogeneity of BFNC has been observed. Two loci, EBN1 and EBN2, have been mapped by linkage analysis to chromosome 20q13 (refs 5,6) and chromosome 8q24 (refs 7,8), respectively. By positional cloning, we recently identified the gene for EBN1 as KCNQ2 (ref. 9). This gene, a voltage-gated potassium channel, based on homology, is a member of the KQT-like family. Here we describe an additional member, KCNQ3. We mapped this new gene to chromosome 8, between markers D8S256 and D8S284 on a radiation hybrid map. We screened KCNQ3 for mutations in the large BFNC family previously linked to chromosome 8q24 in the same marker interval. We found a missense mutation in the critical pore region in perfect co-segregation with the BFNC phenotype. The same conserved amino acid is also mutated in KVLQT1 (KCNQ1) in an LQT patient. KCNQ2, KCNQ3 and undiscovered genes of the same family of K+ channels are strong candidates for other IGEs.

Amino Acid Sequence↗