Marit Hornberg Solaas

Which seizure-precipitating factors do patients with epilepsy most frequently report?

When treating patients with epilepsy, dealing with seizure-precipitating factors is a partly neglected and underestimated supplement to more traditional therapies. The aim of this study was to investigate the incidence of seizure precipitants in a large epilepsy population and to determine which precipitants patients most often reported. Study participants included twins and their family members ascertained from the Norwegian Twin Panel (NTP), the Danish Twin Registry (DTR), and the Mid-Atlantic Twin Registry (MATR). One thousand six hundred seventy-seven patients with epilepsy were identified and were asked about seizure precipitants using a closed-ended questionnaire. Fifty-three percent reported at least one seizure-precipitating factor, while 30% claimed to have experienced two or more such factors. Emotional stress, sleep deprivation, and tiredness were the three most frequently reported precipitants. Patients with generalized seizures seemed to be more sensitive to sleep deprivation and flickering light than those with partial seizures, while women with partial seizures appeared to be more prone to seizures during menstruation than women with generalized seizures. Knowledge of seizure precipitants has practical implications, not only in patient treatment and counseling, but also for diagnosis, in that it may be helpful in facilitating the appearance of interictal epileptiform discharges in EEG and ictal EEG recordings.

The role of the children of twins design in elucidating causal relations between parent characteristics and child outcomes.

BACKGROUND Determination of causal connections between parental measures and child outcomes using typical samples is limited by the inability to account for all confounds, both environmental and genetic. This paper discusses the strength of the Children of Twins (COT) design to highlight the role of specific environments. METHODS A new analytical model is presented which helps differentiate and quantify the environmental and genetic processes underlying associations between family-level risk factors and child adjustment. In order to illustrate the COT design, the relation between smoking during pregnancy and child birth weight (BW) is examined in a sample of female twins and their children from Norway and the United States. RESULTS The results illustrate that smoking during pregnancy is influenced by genetic factors. However, the Children of Twins model supports the claim that smoking during pregnancy has a direct environmental influence on BW and that genetic and shared environmental confounds cannot account for the association. CONCLUSIONS An assessment of the strengths and limitations of the Children of Twins design and a comparison with other research strategies suggest that the design plays a unique role in the study of developmental psychology and psychopathology. Finally, the authors describe how methodological advances and future applications of the design will provide additional insight into the causal processes underlying childrens adjustment to environmental stimuli.

Analyzing the etiology of benign rolandic epilepsy : A multicenter twin collaboration

Summary:  Purpose: Benign rolandic epilepsy (BRE) is considered a genetically determined idiopathic partial epilepsy. We analyzed a large sample of twins from four international twin registers to probe the genetics of BRE. We also aim to synthesize the apparently conflicting family and twin data into a model of BRE etiology.

Pedigree analysis of Eysenck personality questionnaire (EPQ) scores in monozygotic (MZ) twin families

MZ twins with spouses and children, altogether 811 subjects, completed the Eysenck Personality Questionnaire (EPQ). For extraversion (E), neuroticism (N), and lying (L), models including only additive genetic effects fitted well to the observed sex-specific correlations for the various sets of relationships. There was no evidence of sex differences for any parameter estimate for E, N, and L. The fit for E improved significantly after including dominance, and the fit for L improved significantly after including assortative mating. A model specifying genetic additive and dominance effects and assortative mating fitted well to the Psychoticism (P) data, but the fit improved significantly when a parameter for cultural transmission from fathers to daughters were included. Except for this, there was no evidence of cultural transmission for any scores. The heritabilities for the best-fitting models were. 53 (E), .36 (N), .43 (L), and .39 (P). The latter includes almost only nonadditive, and no additive, variance, suggesting an overestimation of this effect due to random fluctuation or environmental sibling effect misinterpreted as dominance.

Serum lipoproteins in plasma lecithin:cholesterol acyltransferase deficiency, studied by electron microscopy

Serum lipoproteins from a patient with LCAT deficiency have been studied by electron microscopy and compared with lipoproteins from a normal individual and a patient with hyperlipo‐proteinemia of type IV. Particles of density < 1.006 g/ml from the LCAT deficiency patient were within a range of 230–3000 Å in diameter, whereas the diameters of the corresponding particles from the other two subjects fell within a range from 230 to 900 Å. A mean diameter of approximately 200 Å was found for the low density lipoproteins (l.019–1.063 g/ml) from the three subjects investigated.

Genetic factors in seizures: a population-based study of 47,626 US, Norwegian and Danish twin pairs.

The purpose of the study was to describe a large sample of twins reporting a history of seizures, to characterize seizures in the three subpopulations, and to estimate the relative importance of genetic and environmental factors in seizure occurrence. Seizure history was determined by questionnaires completed by twins in population-based twin registries in the United States, Norway and Denmark. Concordance rates were calculated for all seizure categories within and across twin populations. Of 47,626 twin pairs evaluated, 6234 reported a history of seizures in one or both twins. Concordance rates were significantly higher for monozygotic (MZ) versus dizygotic (DZ)pairs for all seizure categories within and across populations. The results of this study involving the largest unselected, population-based sample of twins with seizures assembled to date confirm the importance of genetic factors in determining risk for epilepsy, febrile seizures, other seizures and staring spells. This sample is likely to provide an important resource for studying the genetics of epilepsy subtypes and febrile seizures.

Effect of Haptoglobin Subtypes on Serum Lipid Levels

Haptoglobin (Hp) subtypes were analysed by two-dimensional high-resolution gel electrophoresis in 81 Norwegian individuals with moderate hypercholesterolemia and in 316 Norwegian control subjects. The frequencies of the genes Hp2SS and Hp2SF were higher in individuals with hypercholesterolemia than in controls but the differences did not reach statistical significance (p = 0.087). Within the control population, no effect of the different Hp subtypes was found on total serum cholesterol, triglycerides or high-density lipoprotein (HDL) cholesterol. However, in the controls a significantly higher frequency of Hp2-2 types was found among those with HDL cholesterol values in the upper quartile as compared to those with HDL cholesterol in the lower quartile. A similar phenomenon was not uncovered in analyses of total serum cholesterol or triglycerides. Our results are in agreement with others which indicate that genes belonging to the Hp polymorphism play a role in predicting an individuals total serum cholesterol level. However, our data indicate that the cholesterol effect is on the HDL rather than on the total cholesterol level.

The accuracy of self-reported history of seizures in Danish, Norwegian and U.S. twins

Questionnaire surveys provide an efficient means of identifying potential seizure cases in large population-based cohorts. Concerns exist, however, with regard to the reliability of self-reported information both with respect to the validity of the results obtained and with regard to the usefulness of this approach in identifying true cases. Information on history of seizures obtained by questionnaire from members of 47,626 twin pairs included in the Mid-Atlantic (MATR), Danish (DTR) and Norwegian (NTR) Twin Registries was verified using medical records and detailed clinical and family interviews. The accuracy of these reports was assessed. Self-reported epilepsy was verified in 81.9% of twins overall (86.1% (DTR), 75.6% (NTR) and 80.7% (MATR)). However, when both pair members reported a history of epilepsy in the affected pair member, epilepsy was verified in >90% of cases. Among MATR twins with a verified history of epilepsy, 21.5% reported other seizures but not epilepsy and 18.5% of verified Norwegian epilepsy cases reported no history of epilepsy themselves and were identified only through their co-twin. The results of this study indicate that the accuracy of self-reported epilepsy and febrile seizures among those who provided information on health history was high across all populations. However, the relatively large percentage of twins with a verified diagnosis who did not acknowledge epilepsy suggests that the frequency of epilepsy may be under-estimated in self-reported samples.

The occurrence and characteristics of auras in a large epilepsy cohort.

Objectives –  Despite several studies, estimates of the frequency with which auras occur in conjunction with epilepsy continue to be imprecise. The aim of this study was to assess the occurrence and characteristics of auras in a large population‐based epilepsy cohort.

Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS

Background –  Mutations in the three genes SCN1A, SCN1B and GABRG2, all encoding subunits of ion channels, have been known to cause generalized epilepsy with febrile seizures plus (GEFS+) in families of different origin.