Convulsive Status Epilepticus Induced by Electroconvulsive Therapy in a Patient with Major Depression.

Electroconvulsive therapy (ECT) is a well-known, safe, and efficient treatment for a variety of psychiatric diseases. We present here an unusual case of a 34-year-old patient with major depression, who developed convulsive status epilepticus persistent for eight days in connection to her first ECT-a very uncommon but serious complication. The patient was, prior to ECT treatment, treated with lithium carbonate and clomipramine for her depression. Six years prior to the ECT, the patient had experienced a convulsive syncope resulting in traumatic subarachnoid haemorrhage. This case emphasizes the importance of medical recording to detect possible risk factors when considering ECT treatment.

Safety and feasibility of an intensive epilepsy nurse-based treatment course.

PURPOSE: To determine safety, feasibility and patient satisfaction of an epilepsy nurse-based treatment course with frequent contacts and changes of anti-epileptic treatment provided by supervised anti-epileptic drug (AED) prescribing epilepsy nurses. METHODS: Regular prescheduled clinical contacts with a neurologist to adjust AED treatment were largely substituted by on-demand contacts with epilepsy nurses with the delegated right to adapt AED within predefined limits. To secure safety, electronic medical files of patients with 6 or more contacts with epilepsy nurses were retrospectively analysed for clinical characteristics, safety measures and seizure frequency before/after the intensive treatment course and patients were asked to complete a questionnaire about treatment satisfaction. RESULTS: Between January 1st 2016 and 31st December 2018, 2721 patients were treated by epilepsy nurses (2561 ambulatory controls, 8690 phone contacts). 617 patients received an intensive treatment course (six or more contacts in the observation period, range: 6-65) with an average length of 24.3 months. The average number of AED tried was 3.4. In patients with ongoing seizures (n = 310), 165 (53.2 %) reported an improvement of seizure frequency by 50 % or more. Seizure frequency fell from 4.4 to 2.4 days with seizures/months (p < 0.001). The epilepsy-related hospitalization rate was 0.86/patient; 27 episodes with status epilepticus occurred in 21 patients, three hospitalizations were due to severe side effects. There were no fatal complications. No hospitalization was related to the intensive treatment course by prescribing epilepsy nurses. The overall patients' satisfaction was high. CONCLUSION: Intensive epilepsy treatment facilitated by epilepsy nurses was safe and associated with high patient accept and improvement of seizure frequency.

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14.

Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance and the genes involved are yet to be fully established. A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Z(mean)=3.9, p<0.0001; HLOD=3.3, alpha=0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1.

Gender differences in epilepsy.

PURPOSE: The aim of this study was to look at gender differences in unselected populations of patients with epilepsy classified according to the 1989 International League Against Epilepsy (ILAE) criteria. METHODS: Data were obtained from two sources: (a) the EpiBase database at the outpatient clinic at the Department of Neurology, Aarhus University Hospital, Denmark, confined to adults with epilepsy (n=2,170), and (b) the Danish Twin Registry (n=318). RESULTS: In localization-related epilepsy, no overall gender difference was found in either the EpiBase population (n=1,511; w=750 (50%), m=761 (50%); p=0.80) or in the twin population (n=172; w=86 (50%), m=86 (50%); p=1.00). However, in the EpiBase population, localization-related symptomatic epilepsies were more frequent in men (n=939; w=426 (45%), m=513 (55%); p=0.005); and cryptogenic localization-related epilepsies were more frequent in women (n=572; w=324 (57%), m=248 (43%); p=0.002). In generalized epilepsy, more women than men were diagnosed in both populations [EpiBase: n=480, w=280 (58%), m=200 (42%); p<0.001; twin population: n=105, w=63 (60%), m=42 (40%); p=0.05]. The difference was confined to idiopathic generalized epilepsy [EpiBase: n=437, w=259 (59%), m=178 (41%); p<0.001; twin population: n=94, w=60 (64%), m=34 (36%); p=0.01]. CONCLUSIONS: More women than men were diagnosed with idiopathic generalized epilepsy in two epilepsy populations. Overall, no gender difference was found in localization-related epilepsy, but localization-related symptomatic epilepsies were more frequent in men, and cryptogenic localization-related epilepsies were more frequent in women The results suggest a gender susceptibility to the development of specific epilepsy subtypes.

Epileptic seizures and syndromes in twins: the importance of genetic factors.

The role of genetic factors in the occurrence of epilepsy syndromes was studied in twins recruited from the population-based Danish Twin Registry. A total of 34,076 twins were screened for epilepsy. Cases were confirmed and classified by two neurologists according to the classification systems of the International League Against Epilepsy (ILAE). A total of 214 twin pairs with epileptic seizures and 190 pairs with epilepsy were ascertained. Significantly higher concordance rates were found for monozygotic (MZ) compared to dizygotic (DZ) twins for both epileptic seizures (0.56 for MZ and 0.21 for DZ pairs, P<0.001) and for epilepsy (0.49 for MZ and 0.16 for DZ pairs, P<0.001). Concordance rates were also higher for MZ twins compared to DZ twins for both generalized epilepsy (0.65 for MZ and 0.12 for DZ) and for localization-related epilepsy (0.30 for MZ and 0.10 for DZ). In twin pairs where both members had seizures, 83% of MZ and 65% of DZ pairs had the same major epilepsy syndrome. Genetic factors were found to account for 80% of the liability to both epileptic seizures and epilepsy. In conclusion, analysis of this neurologist-verified epilepsy twin data set has confirmed that genetic factors have a substantial impact on the etiology of epileptic seizures as well as on the occurrence of both generalized and partial epilepsies.

Genetic and environmental factors in febrile seizures: a Danish population-based twin study.

The relative importance of genetic and environmental factors in the etiology of febrile seizures was estimated using a large, unselected population-based twin sample. A total of 34,076 twins (aged 12-41 years), recruited from the Danish Twin Registry, were screened for febrile seizures by questionnaire. Information was obtained from 11,872 complete pairs. Concordance rates, odds ratios and correlations were used to assess the degree of similarity in monozygotic (MZ) and dizygotic (DZ) twins. Model fitting and estimation of heritability (proportion of the population variance attributable to genetic variation) were performed using standard biometrical methods. Significantly higher probandwise concordance rates were found for MZ compared with DZ twins (0.36 and 0.12, P < 0.01). Odds ratios and correlations showed a similar pattern. An etiological model including additive genetic effects and individual-specific environmental factors provided the best fit to the data with a heritability for febrile seizures of 70% (95% CI: 61-77%). The remaining 30% of the variation could be attributed to individual-specific environmental factors. In conclusion, this study has confirmed a major impact of genetic factors in the etiology of febrile seizures. Future studies aimed at identifying the specific genetic factors and environmental exposures involved in determining febrile seizure risk are clearly warranted.

Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q.

Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by onset of typical absence seizures in otherwise normal children of school age. A genetic component to aetiology is well established but the mechanism of inheritance and the genes involved are unknown. Available evidence suggests that mutations in genes encoding GABA receptors or brain expressed voltage-dependent calcium channels (VDCCs) may underlie CAE. The aim of this work was to test this hypothesis by linkage analysis using microsatellite loci spanning theses genes in 33 nuclear families each with two or more individuals with CAE. Seventeen VDCC subunit genes, ten GABA(A)R subunit genes, two GABA(B) receptor genes and the ECA1 locus on 8q24 were investigated using 35 microsatellite loci. Assuming locus homogeneity, all loci gave statistically significant negative LOD scores, excluding these genes as major loci in the majority of these families. Positive HLOD scores assuming locus heterogeneity were observed for CACNG3 on chromosome 16p12-p13.1 and the GABRA5, GABRB3, GABRG3 cluster on chromosome 15q11-q13. Association studies are required to determine whether these loci are the site of susceptibility alleles in a subset of patients with CAE.