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PubMed2003

The health-related quality of life of childhood epilepsy syndromes.

OBJECTIVE: There is increasing awareness of the importance of assessing physical, psychological, social and behavioural well-being in chronic disease. The aim of this study was to examine the health-related quality of life (HRQoL) of children with common epilepsy syndromes and to explore if there are HRQoL differences between those syndromes. METHODS: Each child had their epilepsy syndrome defined according to the International League Against Epilepsy classification. Epilepsy syndromes included symptomatic frontal, temporal, parietal/occipital lobe and partial unlocalized epilepsy, and two idiopathic epilepsies, childhood absence epilepsy (CAE) and benign rolandic epilepsy (BRE). Seizure semiology and ictal/interictal electroencephalogram (EEG) were determined for symptomatic partial epilepsy syndromes by video-EEG monitoring. HRQoL was evaluated with an epilepsy-specific instrument, the Quality of Life in Childhood Epilepsy Questionnaire, and two generic instruments, the Child Health Questionnaire and Child Behavior Checklist. RESULTS: Children with symptomatic partial epilepsy syndromes were affected by epilepsy in a similar way and did not have unique HRQoL profiles. However, these children had significantly lower HRQoL scores compared to those with CAE or BRE. All children with epilepsy regardless of syndrome had a higher frequency of behavioural problems compared to normative data. CONCLUSION: These results indicate that children with epilepsy regardless of syndrome require evaluation of the psychosocial implications. There is a greater impact on HRQoL in symptomatic epilepsy compared to idiopathic epilepsy. Specific symptomatic partial syndromes did not differ in the degree they affect HRQoL. These findings have important implications for clinicians caring for children with epilepsy.

Adolescent↗
PubMed2004

[Genetic approach to the pathogeneses of epilepsy].

Recently, genetic causes have been identified in certain epilepsy syndromes in which the phenotypes are similar to common idiopathic epilepsies. Interestingly, almost all such genetic abnormalities were detected in genes encoding ion channels expressed in the brain. Thus such epilepsy syndromes are disorders of ion channels, i.e., "channelopathies". The list of ion channel abnormalities that are associated with childhood epilepsy is expanding and includes the followings. Mutations of the genes encoding two subunits of the neuronal nicotinic acetylcholine receptor, a ligand-gated ion channel, were found in autosomal dominant nocturnal frontal lobe epilepsy. Mutations of two KCNQ K+-channel genes were identified in benign familial neonatal convulsions. Mutations of the genes encoding several subunits of the voltage-gated Na+-channel and GABA(A) receptor, a ligand-gated ion channel, were also identified as underlying causes of various epilepsy syndromes, such as autosomal dominant epilepsy with febrile seizures plus or generalized epilepsy with febrile seizures plus, benign familial neonatal infantile seizures and autosomal dominant juvenile myoclonic epilepsy. Mutations within the same gene can result in different epilepsy phenotypes. Abnormalities of Na+-channel alpha1 subunit were also associated with severe myoclonic epilepsy in infancy. Epilepsy syndromes mentioned above, except for severe myoclonic epilepsy in infancy, were familial epilepsy syndromes showing dominant inheritance with high penetrance while common idiopathic epilepsies do not show obvious inheritance. However, the similarities in symptomatology between such familial epilepsies and common idiopathic epilepsy may provide us with clues to the genetics of common idiopathic epilepsies.

Epilepsy↗
PubMed2006

Familial genetic predisposition, epilepsy localization and antecedent febrile seizures.

PURPOSE: The magnitude of genetic influence in epilepsy may vary in relation to epilepsy classification and localization and factors such as antecedent febrile seizures. We assessed this genetic influence in a large epilepsy population. METHODS: Patients with established epilepsy diagnosis evaluated in the Vanderbilt Epilepsy Program were systematically questioned about family history of epilepsy and febrile seizures, prior febrile seizures and other risk factors for epilepsy. RESULTS: A total of 1994 patients with epilepsy and reliable family history were identified. Patients with prior febrile seizures (FS) were more likely to have a family history of febrile seizures than those without prior FS (p<0.000001) and also had a greater proportion of relatives with febrile seizures. The groups did not differ with respect to family history of epilepsy. Patients with generalized epilepsy were more likely to have first and second degree relatives with epilepsy than those with partial epilepsy (40.2% versus 31.2%, p=0.001), and also had a greater proportion of affected first degree relatives (p<0.000001). The proportion of first degree relatives affected with epilepsy was higher than local published prevalence, for both groups. CONCLUSION: Susceptibility for febrile seizures with subsequent epilepsy may be genetically distinct from susceptibility for afebrile seizures alone. Although family history of epilepsy was more likely with generalized epilepsy, a familial tendency was considerable in partial epilepsy.

Adolescent↗
PubMed2000

Are some idiopathic epilepsies disorders of ion channels?: A working hypothesis.

Epilepsy is a common neurological disease and encompasses a variety of disorders with paroxysms. Although there is a genetic component in the pathogenesis of epilepsy, the molecular mechanisms of this syndrome remains poorly understood. Linkage analysis and positional cloning have not been sufficient tools for determining the pathogenic mechanisms of common idiopathic epilepsies, and hence, novel approaches, based on the etiology of epilepsy, are necessary. Recently, many paroxysmal disorders, including, epilepsy, have been considered to be due to ion channel abnormalities or channelopathies. Results of recent studies employing gene analysis in animal models of epilepsy and human familial epilepsies support the hypothesis that at least some of the so called idiopathic epilepsies, i.e. epilepsies currently, classified as idiopathic could be considered as a channelopathy. This hypothesis is consistent with the putative prerequisites for genes responsible for the majority of idiopathic epilepsies that can adequately explain the following characteristics of epilepsy. Neuronal hyperexcitability, dominant inheritance with various penetrance, pharmacological role of some conventional antiepileptic drugs, age dependency in the onset of epilepsy, and the involvement of genetic factors in the pathogenesis of post-traumatic epilepsy. Search for mutations in ion channels expressed in the central nervous system may help in finding defects underlying some of idiopathic epilepsies, thereby enhancing, our understanding of the molecular pathogenesis of epilepsy. A working hypothesis to view certain idiopathic epilepsies as disorders of ion channels should provide a new insight to our understanding of epilepsy and allow the design of novel therapies.

Animals↗
PubMed2003

Family study of epilepsy in first degree relatives: data from the Italian Episcreen Study.

OBJECTIVE: To evaluate the family history of epilepsy in first degree relatives of probands with epilepsy. METHODS: A sample of 10787 patients with epilepsy with complete information about first degree relatives (parents, siblings and offspring) was selected from the database of the Episcreen Project, the largest Italian observational study on epilepsy. Family history was assessed by: (1) prevalence estimates of epilepsy among proband's relatives, (2) modified cumulative risks (MCR), adjusted using proband's age as censoring time in life tables, (3) standardised morbidity ratios (SMR), using a sub-group of symptomatic epilepsies as control group. RESULTS: Patients (9.1%) had a family history of epilepsy. The overall prevalence of epilepsy among first degree relatives was 2.6%. Idiopathic generalised epilepsies had the highest prevalence (5.3%). Cryptogenetic epilepsies had a lower prevalence (2.1%) than idiopathic epilepsies, but higher then symptomatic epilepsies (1.5%), both in generalised and focal forms (3.8% vs. 2.0% and 1.8% vs. 1.3%). A similar tendency was detected using MCR and SMR, with the higher values of risks/ratios for idiopathic and generalised epilepsies. Probands with idiopathic generalised epilepsies were highly concordant with respect to their relatives' type of epilepsy. Considering other strata factors, risks were higher in proband's epilepsies with an onset less then 14 years of age, while sex played no definite role in differentiating the family history. CONCLUSIONS: The Episcreen model permits a variety of stratification factors to measure family risk, including age at onset, epilepsy localisation and aetiology with a large sample of more than 10,000 probands and 1065/40,544 relatives affected and classified.

Adolescent↗
PubMed1987

Intractable epilepsy and disturbed visuomotor performance.

The factors relevant to intractability, types of epilepsy and impairment of dexterity in patients with intractable epilepsy were studied independently in different groups of patients. The factors relevant to intractable epilepsy that were disclosed in 202 patients, who required hospitalization more than twice, were as follows: strong seizure propensity, neuropsychiatric disorders including mental deterioration of various degrees, ataxia, personality changes and psychotic episodes, intolerance to antiepileptic drugs due to acute or chronic side effects, idiosyncrasy and internal disorders, self-induced seizure, misdiagnosis and mistreatment, and breakdown of family care of patients. The types of epilepsy in 224 patients with intractable epilepsy whose seizures were not adequately controlled and recurred on a monthly basis in spite of hospitalization were classified as follows: 101 patients with localization-related epilepsies or syndromes, 106 with generalized epilepsies or syndromes, 16 with undetermined epilepsies or syndromes and one with specific syndrome. In regard to partial epilepsies, frontal lobe epilepsy and partial epilepsy with multiple foci were at least partially intractable as temporal lobe epilepsy. With respect to intractable generalized epilepsies, miscellaneous symptomatic generalized epilepsies like intractable grand mal epilepsy with progressive mental retardation in childhood were as important as Lennox-Gastaut or West syndrome though it defies classification into any established syndromes. The proposed International Classification of Epileptic Syndromes and Epilepsies was found adequate for analysis of intractable epilepsy. The disturbance of fine motor performance found in 84 patients who participated in occupational therapy was investigated by test programs comprising nine subbatteries.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMedDate not supplied

Community-based study of mortality in children with epilepsy.

We used the records of a statewide pediatric mortality surveillance system to determine mortality rates and causes of death in children with epilepsy. Of the 1,095 children aged 1-14 years who died in the state of Victoria during the study period 1985-1989, 93 had a history of epilepsy. Six children (6%) had primary epilepsy, and 87 (94%) had secondary epilepsy. Death was (a) directly attributable to epilepsy in 20 (22%), including 11 with sudden unexplained death, (b) not directly attributable to epilepsy in 59 (63%), and (c) of undetermined cause in 14 (15%). No classifiable death occurred as a direct result of status epilepticus. The average annual mortality rates for children with epilepsy were (a) death from all causes, 30.6 in 10,000 [95% confidence interval (CI) 19.7, 47.5], and (b) death attributable to epilepsy, 6.6 in 10,000 (95% CI 3.7, 11.8). Relative to the all-cause mortality rate in children without epilepsy, the all-cause mortality rate ratios were (a) all children with epilepsy, 13.2 (95% CI 8.5, 20.7); (b) primary epilepsy, 1.1 (95% CI 0.5, 2.6); and (c) secondary epilepsy, 49.7 (95% CI 31.7, 77.9). The mortality rate ratios for secondary epilepsy relative to primary epilepsy were (a) death from all causes, 43.5 (95% CI 19.0, 99.5); and (b) death attributable to epilepsy, 9.0 (95% CI 3.3, 24.8). Epilepsy appeared on the death certificate of only 11 of 20 (55%) children whose deaths were attributable to epilepsy.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2000

A comparison of two methods for estimating the health care costs of epilepsy.

PURPOSE: Previous studies have estimated medical care costs of epilepsy by applying unit costs to estimated utilization or by summing costs for (a) ambulatory care and hospitalizations coded as epilepsy and (b) procedures and drugs specifically associated with the diagnosis or treatment of epilepsy. These methods may underestimate the cost of medical care for epilepsy. Two methods for estimating the medical care costs of epilepsy ("epilepsy-attributable cost method" and "case-control cost method") were compared. METHODS: The study population was 655 individuals with an epilepsy diagnosis enrolled in a managed care plan in the southwestern United States. The epilepsy-attributable costs were determined by summing costs for inpatient and outpatient encounters coded as epilepsy, procedures for the diagnosis or treatment of epilepsy, and drugs used to treat epilepsy. The case-control method determined costs by calculating the difference in total costs between cases and 1,965 age- and gender-matched controls. RESULTS: The case-control epilepsy costs were $2,923 per case compared with epilepsy-attributable costs of $1,335 per case. The case-control method found statistically significant differences in costs between cases and controls for inpatient care, prescription drugs, and 8 of 11 categories of outpatient care. The largest contributors to the discrepancy between estimates were inpatient care, emergency department care, laboratory tests, and "other specialist" care. CONCLUSIONS: Epilepsy-attributable costs accounted for only 46% of the total difference in costs between epilepsy cases and controls. Persons with epilepsy use more medical services than controls, but a substantial portion of this care is not coded to epilepsy.

Adolescent↗
PubMed2005

Best practice guidelines for the management of women with epilepsy.

Being a woman with epilepsy is not the same as being a man with epilepsy. Epilepsy affects sexual development, menstrual cycle, aspects of contraception, fertility, and reproduction. MENSTRUAL CYCLE, EPILEPSY, AND FERTILITY: The diagnosis of epilepsy and the use of antiepileptic drugs (AEDs) present women of childbearing age with many problems; both the disease and its treatment can alter the menstrual cycle and fertility. CONTRACEPTION IN EPILEPSY: There are no contraindications to the use of nonhormonal methods of contraception in women with epilepsy (see Table 3). Nonenzyme-inducing AEDs (valproate sodium, benzodiazepines, ethosuximide, and levetiracetam) do not show any interactions with the combined oral contraceptive pill. There are interactions between the COCP and hepatic microsomal-inducing AEDs (phenytoin, barbiturates, carbamazepine, topiramate [doses above 200 mg/day], and oxcarbazepine) and also lamotrigine. SEXUALITY: The majority of women with epilepsy appear to have normal sex lives, although in some women with epilepsy, both the desire and arousal phases may be inhibited. PRECONCEPTION COUNSELING: Preconception counseling should be available to all women with epilepsy who are considering pregnancy. Women with epilepsy should be aware of a number of issues relating to future pregnancy, including methods and consequences of prenatal screening, genetics of their seizure disorder, teratogenicity of AEDs, folic acid and vitamin K supplements, labor, breast feeding, and childcare. PREGNANCY: The lowest effective dose of the most appropriate AED should be used, aiming for monotherapy where possible. Recent pregnancy databases have suggested that valproate is significantly more teratogenic than carbamazepine, and the combination of valproate sodium and lamotrigine is particularly teratogenic. Most pregnancies are uneventful in women with epilepsy, and most babies are delivered healthy with no increased risk of obstetric complications in women. BREAST FEEDING: All women with epilepsy should be encouraged to breastfeed their babies. The AED concentration profiled in breast milk follows the plasma concentration curve. The total amount of drug transferred to infants via breast milk is usually much smaller than the amount transferred via the placenta during pregnancy. However, as drug elimination mechanisms are not fully developed in early infancy, repeated administration of a drug such as lamotrigine via breast milk may lead to accumulation in the infant. THE CARE OF CHILDREN OF MOTHERS WITH EPILEPSY: Although there is much anxiety about the possible risks to a child from the mother's epilepsy, there is little published evidence. The risk of the child being harmed depends on the type of seizure and its severity and frequency, and this risk is probably small if time is taken to train mothers and caregivers in safety precautions. MENOPAUSE: During menopause, about 40% of women report worsening of their seizure disorder, 27% improve, and a third had no change. Hormone replacement therapy is significantly associated with an increase in seizure frequency during menopause, and this is more likely in women with a history of catamenial epilepsy. BONE HEALTH: Women with epilepsy are at increased risk of fractures, osteoporosis, and osteomalacia.

Adolescent↗
PubMed1997

[Epilepsies during the first year of life].

OBJECTIVE: An important number of epileptic patients who began with epileptic seizures during the first year of life have not just been well classified. The objective is to identify the different types of epilepsies and epileptic seizures which begin during the first year of life, according to the last classification of epilepsy and epileptic syndromes of 1989. MATERIAL AND METHODS: We have studied 471 patients who consulted to our service in the last 5 years, with epileptic seizures during the first year of life. We excluded neonatal seizures and febrile convulsions. RESULTS: 1. Partial epilepsy: a) idiopathic: 12 (2.5%); b) symptomatic: 130 (28%); c) cryptogenic: 25 (5%). 2. Generalized epilepsy: a) idiopathic: benign myoclonic epilepsy in infancy, 6 (1%); b) cryptogenic-symptomatic: symptomatic West syndrome, 155 (33%); cryptogenic West syndrome, 65 (14%); cryptogenic myoclonic epilepsy, 6 (1%); early infantile epileptic encephalopathy, 8 (1.6%); early myoclonic encephalopathy, 4 (0.8%); other symptomatic generalized epilepsies without specific aetiology, 14 (3%). 3. Epilepsies and syndromes undetermined as to whether they are focal or generalized: a) severe myoclonic epilepsy in infancy, 15 (3%); symptomatic epilepsy with multifocal and independent spikes, 3 (0.6%); other undetermined epilepsies not defined above, 3 (0.6%). 4. Special syndromes: occasional convulsions, 15 (3%). CONCLUSIONS: West syndrome is the commonest type of epilepsy during the first year of life, particularly symptomatic West syndrome. Symptomatic partial epilepsies are in the second place in frequency. We identified 12 patients with idiopathic partial epilepsy, who full-filled clinical and EEG characteristics of a recently described epilepsy: benign infantile familial convulsions. The study showed the predominance of symptomatic epilepsy, generalized (represented by West syndrome) and partials. Finally 6% of the patients have a generalized epilepsy, cryptogenic or symptomatic, not defined in the classification.

Epilepsy↗
PubMed2004

Surgical Treatment for Extratemporal Epilepsy.

Partial seizures of extratemporal origin may present unique challenges in the patient with medically refractory seizures. The efficacy of an extratemporal focal cortical resection may be less effective than an anterior temporal lobectomy for intractable epilepsy. The potential operative complications may be increased in individuals with extratemporal epilepsy because of functional cerebral cortex involvement and the need for a large cortical resection to significantly reduce seizure tendency. Partial seizures of extratemporal origin are predominantly associated with frontal lobe epilepsy. The most effective treatment for intractable partial epilepsy is a focal cortical resection with excision of the epileptogenic zone, that is, an area of ictal onset and initial seizure propagation. The preoperative evaluation and operative strategy in patients with partial epilepsy of extratemporal origin associated with pharmacoresistant seizures is determined by the anatomic localization of the epileptogenic zone and the presence of a substrate-directed disorder. The goals of surgical treatment in extratemporal epilepsy include rendering the patient seizure-free, avoiding operative morbidity, and allowing the individual to become a participating and productive member of society. Before surgical treatment, the individual with extratemporal epilepsy will require a comprehensive preoperative evaluation, including routine electroencephalogram (EEG), long-term EEG monitoring, neuropsychologic studies, and magnetic resonance imaging (MRI). Patients with a normal MRI study, conflicting preoperative evaluation, or involvement of suspected functional cerebral cortex would require chronic intracranial EEG monitoring. The rationale for intracranial EEG includes localization of the ictal onset zone or intraoperative functional mapping, or both. Two-fluorodeoxyglucose positron emission tomography studies are usually unremarkable in patients with extratemporal epilepsy and normal MRI scans. Subtraction ictal single photon emission computed tomography coregistered to MRI (SISCOM) study may be useful to demonstrate a localized cerebral perfusion alteration in patients with intractable partial epilepsy. The diagnostic yield of SISCOM has been confirmed in patients with extratemporal epilepsy undergoing surgical treatment. The results of the SISCOM study may tailor the placement of intracranial EEG electrodes and affect the operative strategy. Patients with extratemporal epilepsy overall are less favorable operative candidates than individuals with medial temporal lobe epilepsy. However, individuals with MRI-identified lesional pathology of SISCOM-identified perfusion alterations concordant with the epileptogenic zone may be considered for surgical treatment. Chronic intracranial EEG monitoring may be necessary to confirm the localization of the ictal onset zone before epilepsy surgery. Patients with normal neuroimaging studies and extratemporal epilepsy are unlikely to be rendered seizure-free with focal cortical resection and should be considered candidates for other alternative forms of treatment for intractable partial epilepsy. Patients with non-substrate-directed extratemporal epilepsy should undergo a preoperative evaluation and surgical treatment at a comprehensive epilepsy center with extensive experience in chronic intracranial EEG monitoring and contemporary neuroimaging procedures because of the inherently high acuity associated with the operative management clinical disorder.

Journal Article↗
PubMed1998

Are generalized and localization-related epilepsies genetically distinct?

BACKGROUND: Whether the genetic influences are distinct for generalized and localization-related epilepsies or whether some susceptibility genes raise the risk for both types of epilepsy is uncertain. OBJECTIVE: To evaluate genetic heterogeneity in epilepsy. METHODS: We used Cox proportional hazards analysis to compute rate ratios (RRs) for generalized and localization-related idiopathic or cryptogenic epilepsy in the first-degree relatives of 1498 adult probands with idiopathic or cryptogenic epilepsy ascertained from voluntary organizations. The reference group comprised the first-degree relatives of 362 probands from the same study with postnatal symptomatic epilepsy in whom the genetic contributions appear to be minimal. RESULTS: In the parents and siblings, the risk for all idiopathic or cryptogenic epilepsy was greater if the proband's epilepsy was generalized than if it was localization-related (RR, 4.7 vs 2.4). However, in the parents and siblings of each group of probands, the increased risk was not restricted to the same type of epilepsy as in the proband. The results differed in offspring, with a greater risk for all types of epilepsy if the proband's epilepsy was localization-related than if it was generalized (RR, 4.2 vs 1.6) and a greater risk for localization-related epilepsy than for generalized epilepsy (RR, 7.8 vs 1.8) if the proband's epilepsy was localization-related. CONCLUSIONS: These findings in parents and siblings suggest that some susceptibility genotypes raise the risk for both generalized and localization-related epilepsies but are more common in persons affected with generalized epilepsy. The different findings in offspring may reflect a different influence on susceptibility in that subgroup.

Adolescent↗
PubMed1997

Reproduction among individuals with idiopathic/cryptogenic epilepsy: risk factors for spontaneous abortion.

PURPOSE: We wished to determine the effects of seizure type, age at onset, and family history of epilepsy on risk of spontaneous abortion in the pregnancies of adults with idiopathic/cryptogenic epilepsy. METHODS: We examined pregnancy outcomes in 812 adults with idiopathic/cryptogenic epilepsy who had ever had or fathered a pregnancy and 250 of their same sex siblings who had ever had or fathered a pregnancy. We compared the likelihood of spontaneous abortion before and after onset of epilepsy with the likelihood of spontaneous abortion among same sex siblings. RESULTS: Risk of spontaneous abortion was not increased before onset of epilepsy. After onset of epilepsy, risk of spontaneous abortion was significantly increased in the pregnancies of wives of men who had localization-related epilepsy with age at onset <10 years or who did not have a family history of epilepsy. In women after onset of epilepsy, risk of spontaneous abortion was significantly increased for pregnancies of women with localization-related epilepsy with age at onset < or =20 years and for those of women with or without a family history of epilepsy. Risk of spontaneous abortion was greatest in the pregnancies of women with a positive family history of epilepsy odds ratio, (OR = 2.12, p < 0.05). CONCLUSIONS: Risk of spontaneous abortion in the pregnancies of men and women with idiopathic/cryptogenic epilepsy varied with the clinical characteristics of their epilepsy. The increased risk of spontaneous abortion in women with a family history of epilepsy may influence the observed risk of epilepsy in their live-born offspring.

Abortion, Spontaneous↗
PubMed1986

New wave of research in the epilepsies.

The epilepsies affect at least 1 to 2 million people in the United States and 20 to 40 million people worldwide. Because the causes and basic mechanisms of the epilepsies have only started to unravel, there is still no cure for the disease. The purpose of this chapter is to present the new routes of navigation in epilepsy research, the salient theories on mechanisms of epilepsies, and their cogency to cause (generation of seizures) and effects (epileptic cell damage). In particular, it advances a comprehensible picture of the major cellular events involved in the generation, arrest, or spread of partial epileptic seizures; it also questions the major molecular events involved in the transmission and use of genetic information in the generalized epilepsies. In reviewing the many theories on mechanisms of epilepsies, this chapter establishes the connections between neurosciences, molecular genetics, and the epilepsies. The knowledge gained from such connections will certainly bear on the diagnosis of the subvarieties of epilepsies and is already promoting new methods of treatment of the disease. Indeed, it is this fusion between molecular genetics, neurosciences, and the clinical epilepsies that provides the excitement and new ferment in research of the epilepsies. This chapter also advances a conceptual blueprint for priority challenges in epilepsy research. It calls attention to the primary goal, namely, understanding the mechanisms of human epilepsies. In the most common of human epilepsies, namely, temporal lobe epilepsy, a priority challenge is to analyze paroxysmal depolarization shifts in hippocampal slices in vitro, slices excised from known sites of epileptogenicity. Parallel experiments exploring biochemical membrane abnormalities in neuronal and glial membranes isolated from the hippocampal seizure focus would be especially valuable. The role of kindling and the mirror focus in human temporal lobe epilepsy must be resolved. A second important goal is the search for polymorphisms of restriction endonuclease patterns in monogenic epilepsies in order to localize the abnormal gene to a specific chromosome. Because of the recent successful applications of positron emission tomography (PET), single-photon-emission computed tomography, and nuclear magnetic resonance computed tomography (NMR-CT), ion transport pathways, neurotransmitter systems, and metabolic processes may be constructed within the functioning brains of epileptic patients.(ABSTRACT TRUNCATED AT 400 WORDS)

Animals↗
PubMed2005

Seizure-related factors and non-verbal intelligence in children with epilepsy. A population-based study from Western Norway.

PURPOSE: To study the relationship between seizure-related factors, non-verbal intelligence, and socio-economic status (SES) in a population-based sample of children with epilepsy. METHODS: The latest ILAE International classifications of epileptic seizures and syndromes were used to classify seizure types and epileptic syndromes in all 6-12 year old children (N=198) with epilepsy in Hordaland County, Norway. The children had neuropediatric and EEG examinations. Of the 198 patients, demographic characteristics were collected on 183 who participated in psychological studies including Raven matrices. 126 healthy controls underwent the same testing. Severe non-verbal problems (SNVP) were defined as a Raven score at or <10th percentile. RESULTS: Children with epilepsy were highly over-represented in the lowest Raven percentile group, whereas controls were highly over-represented in the higher percentile groups. SNVP were present in 43% of children with epilepsy and 3% of controls. These problems were especially common in children with remote symptomatic epilepsy aetiology, undetermined epilepsy syndromes, myoclonic seizures, early seizure debut, high seizure frequency and in children with polytherapy. Seizure-related characteristics that were not usually associated with SNVP were idiopathic epilepsies, localization related (LR) cryptogenic epilepsies, absence and simple partial seizures, and a late debut of epilepsy. Adjusting for socio-economic status factors did not significantly change results. CONCLUSIONS: In childhood epilepsy various seizure-related factors, but not SES factors, were associated with the presence or absence of SNVP. Such deficits may be especially common in children with remote symptomatic epilepsy aetiology and in complex and therapy resistant epilepsies. Low frequencies of SNVP may be found in children with idiopathic and LR cryptogenic epilepsy syndromes, simple partial or absence seizures and a late epilepsy debut. Our study contributes to an overall picture of cognitive function and its relation to central seizure characteristics in a childhood epilepsy population and can be useful for the follow-up team in developing therapy strategies that meet the individual needs of the child with epilepsy.

Adolescent↗
PubMed2002

Genetics of epilepsy: current status and perspectives.

Epilepsy affects more than 0.5% of the world's population and has a large genetic component. The most common human genetic epilepsies display a complex pattern of inheritance and the susceptibility genes are largely unknown. However, major advances have recently been made in our understanding of the genetic basis of monogenic inherited epilepsies. Progress has been particularly evident in familial idiopathic epilepsies and in many inherited symptomatic epilepsies, with the discovery that mutations in ion channel subunits are implicated, and direct molecular diagnosis of some phenotypes of epilepsy is now possible. This article reviews recent progress made in molecular genetics of epilepsy, focusing mostly on idiopathic epilepsy, and some types of myoclonus epilepsies. Mutations in the neuronal nicotinic acetylcholine receptor alpha4 and beta2 subunit genes have been detected in families with autosomal dominant nocturnal frontal lobe epilepsy, and those of two K(+) channel genes were identified to be responsible for underlying genetic abnormalities of benign familial neonatal convulsions. The voltage-gated Na(+) -channel (alpha1,2 and beta1 subunit), and GABA receptor (gamma2 subunit) may be involved in the pathogenesis of generalized epilepsy with febrile seizure plus and severe myoclonic epilepsy in infancy. Mutations of Ca(2+)-channel can cause some forms of juvenile myoclonic epilepsy and idiopathic generalized epilepsy. Based upon these findings, pathogenesis of epilepsy as a channelopathy and perspectives of molecular study of epilepsy are discussed.

Chromosomes↗
PubMed2004

What I learnt from studying epilepsy: epileptology and myself.

My life work with epilepsy has allowed me to learn a great deal. As an old soldier, I would like to give an account of some important milestones in my lifetime learning. The first factor that linked me to epilepsy was listening to a lecture delivered by Dr Yushi Uchimura on 'The pathogenesis of Ammon's horn sclerosis' at a conference of the Japanese Society of Neurology (now Japanese Society of Psychiatry and Neurology) in 1928 when I was a 4th year medical student at Tokyo University. The following year, I started to study under Dr Uchimura at the Department of Psychiatry, Hokkaido University School of Medicine. Another factor that linked me to clinical care and research of epilepsy as a psychiatrist was my encounter with the two volumes of 'Selected Writing of John Hughlings Jackson' edited by J. Taylor. Jackson's greatest asset and contribution to modern epileptology include (i) the discovery of 'Jacksonian epilepsy', (ii) 'conceptual revolution of epilepsy' by recognizing transient mental disorders as seizures, (iii) modern definition of epilepsy by defining epileptic seizures as discharges in the gray matter, and (iv) discovery of 'new epilepsy' (now temporal lobe epilepsy). In 1940, I reported clinical courses indistinguishable from schizophrenia in epilepsy cases. Through my studies, I disputed the then prevailing interpretation of this condition as epilepsy complicating schizophrenia, and proved that these cases were in fact epileptic mental disorders caused by epilepsy. Many patients with epilepsy require medical care as well as rehabilitation and welfare support. We need to further promote the facilities for rehabilitation and employment in the community for persons with epilepsy, such as co-operatives and welfare worksites. The issues that epileptology and epilepsy face in the 21st century is to realize the goals of liberating epilepsy from social stigma and protecting all the citizen's rights for persons with epilepsy.

Epilepsy↗
PubMed1996

Reproduction among individuals with idiopathic/cryptogenic epilepsy: risk factors for reduced fertility in marriage.

PURPOSE: We wished to determine risk factors for reduced fertility in marriage in men and women with idiopathic/cryptogenic epilepsy and to relate rates of reproduction to the risk of epilepsy in offspring of affected individuals. METHODS: We determined history of pregnancy and child bearing among 863 adults with idiopathic/cryptogenic epilepsy (ascertained from voluntary organizations) who had been married at some time in their lives and from their same-sex siblings without epilepsy who had been married. We examined the effects of seizure type, age at onset, and family history of epilepsy on fertility. Fertility rates were measured as live births per person-year of marriage before and after onset of epilepsy and compared with fertility rates among same-sex siblings without epilepsy by incidence rate ratios (IRR). RESULTS: For both men and women with epilepsy, reduced fertility was observed after, but not before, onset of epilepsy. Among both men and women with epilepsy, those with partial onset and early age at onset (< 10 years) were more reproductively disadvantaged than those with generalized onset and later age at onset. Among those with epilepsy, men with a family history of epilepsy were less reproductively disadvantaged than men without a family history of epilepsy, whereas women with and without a family history of epilepsy did not differ. CONCLUSIONS: We found no evidence of selectively reduced fertility among men with a genetic susceptibility to epilepsy that could account for the higher risk of epilepsy among offspring of affected women than among offspring of affected men.

Adult↗