| 11. |
- Everett, K. V., et al.
(författare)
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Linkage and association analysis of CACNG3 in childhood absence epilepsy
- 2007
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Ingår i: Eur J Hum Genet. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 15:4, s. 463-72
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Tidskriftsartikel (refereegranskat)abstract
- Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12-p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD = 3.54, alpha = 0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum non-parametric linkage score was 2.87 (P < 0.002). Re-sequencing of the coding exons in 59 patients did not identify any putative causal variants. A linkage disequilibrium (LD) map of CACNG3 was constructed using 23 single nucleotide polymorphisms (SNPs). Transmission disequilibrium was sought using individual SNPs and SNP-based haplotypes with the pedigree disequilibrium test in 217 CAE trios and the 65 nuclear pedigrees. Evidence for transmission disequilibrium (P < or = 0.01) was found for SNPs within a approximately 35 kb region of high LD encompassing the 5'UTR, exon 1 and part of intron 1 of CACNG3. Re-sequencing of this interval was undertaken in 24 affected individuals. Seventy-two variants were identified: 45 upstream; two 5'UTR; and 25 intronic SNPs. No coding sequence variants were identified, although four variants are predicted to affect exonic splicing. This evidence supports CACNG3 as a susceptibility locus in a subset of CAE patients.
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| 12. |
- Fertleman, C. R., et al.
(författare)
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Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)
- 2007
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Ingår i: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 0028-3878 .- 1526-632X. ; 69:6, s. 586-595
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition recently shown to be a sodium channelopathy involving SCN9A. METHODS: An international consortium of clinicians, scientists, and affected families was formed. Clinical details of all accessible families worldwide were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time. A validated pain questionnaire was completed by 14 affected individuals. RESULTS: Seventy-seven individuals from 15 families were identified. The onset of the disorder is in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate initially, with skin flushing in all and harlequin color change and tonic attacks in most. Dramatic syncopes with bradycardia and sometimes asystole are common. Later, the disorder is characterized by attacks of excruciating deep burning pain often in the rectal, ocular, or jaw areas, but also diffuse. Attacks are triggered by factors such as defecation, cold wind, eating, and emotion. Carbamazepine is effective in almost all who try it, but the response is often incomplete. CONCLUSIONS: Paroxysmal extreme pain disorder is a highly distinctive sodium channelopathy with incompletely carbamazepine-sensitive bouts of pain and sympathetic nervous system dysfunction. It is most likely to be misdiagnosed as epilepsy and, particularly in infancy, as hyperekplexia and reflex anoxic seizures.
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| 13. |
- Larsson, Bo, et al.
(författare)
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Återkommande huvudvärk hos barn och tonåringar
- 2007
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Ingår i: Läkartidningen. - Stockholm : Sveriges läkarförbund. - 0023-7205 .- 1652-7518. ; :23, s. 1802-1805
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Tidskriftsartikel (refereegranskat)abstract
- Återkommande huvudvärk är ett av de vanligaste hälsoproblemen bland skolbarn och rapporteras av cirka en fjärdedel. Den är särskilt vanlig bland flickor i tonåren. Vanligast är huvudvärk av spänningstyp och/eller migrän. Hos skolbarn medför återkommande huvudvärk sänkt livskvalitet, högre grad av emotionella och sociala problem samt andra somatiska symtom. Prognosen för sådan huvudvärk är också osäker. Det är av stor vikt att lärare och skolsköterskor/läkare tidigt uppmärksammar återkommande huvudvärk hos barn och ungdom så att den blir diagnostiserad och behandlad i enlighet med bästa tillgängliga kunskap. Ett sådant omhändertagande omfattar både aktiv psykologisk och farmakologisk behandling, vilket påtagligt kan minska besvären och deras psykosociala konsekvenser.
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| 14. |
- Larsson, Katrin, et al.
(författare)
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A population based study of epilepsy in children from a Swedish county
- 2006
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 10:3, s. 107-113
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Tidskriftsartikel (refereegranskat)abstract
- Background: Epidemiological studies of childhood epilepsy are of importance to compare incidence and prevalence rates, age distribution, inheritance, seizure types, epilepsy syndromes and treatment strategies. Aim: To perform an epidemiological study on children with epilepsy in a Swedish county using current ILAE classifications and a recent proposal. Methods: A population-based study was performed using the hospital data register to select children aged 1 month to 16 years with the diagnosis 'convulsions' or 'epilepsy' recognized between January 1996 and December 2000. Only patients with active epilepsy were included. Results: Two hundred and five children met the study criteria on the prevalence day 31st December, 2000. The total prevalence rate was 3.4/1000 with a peak prevalence in the age group 8-11 years. The incidence year 2000 was 40/100,000. Additional neuroimpairments were registered in 47.3%. A majority of the patients, 54.0%, had focal or focal plus secondarily generalized seizures. A named syndrome could be diagnosed in 49.4%. The most common. syndrome was rolandic epilepsy occurring in 17.0%. Childhood absence epilepsy occurred in 5.9%. Different disorders associated with epilepsy were found in 31.7%. The most common associated phenomenon was malformation of cortical development. Antiepileptic drug treatment was used in 81.0%, the most common first choice being valproate. Conclusions: The prevalence and incidence rates in this strictly delineated study are lower than those found in other epidemiological studies. Together with many divergences between reported studies concerning frequencies of different items, the results apparently depend on design, e.g. differences in age groups included, inclusion criteria used, and general methodology.
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| 15. |
- Larsson, Pål G., et al.
(författare)
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A New Method for Quantification and Assessment of Epileptiform Activity in EEG with Special Reference to Focal Nocturnal Epileptiform Activity
- 2009
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Ingår i: Brain Topography. - : Springer Science and Business Media LLC. - 0896-0267 .- 1573-6792. ; 22:1, s. 52-59
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Tidskriftsartikel (refereegranskat)abstract
- Quantification of epileptiform activity in EEG has been applied for decades. This has mainly been done by visual inspection of the recorded EEG. There have been many attempts using computers to quantify the activity, usually with moderate success. In a row of contexts, including Landau-Kleffner syndrome and the syndrome of epilepsy with continuous spike wave during slow sleep, the spike index (SI) has been applied to quantify [Symbol: see text]interictal nocturnal focal epileptiform activity', which is suggested as a general term for the epileptiform activity enhanced by sleep. However, the SI has been implemented differently by different authors and has usually not been well described and never properly defined. This study suggests a definition of SI that gives a semiautomatic and relatively robust algorithm for assessment. The method employs spike detection by means of template matching of the current source density estimate. The percentage of time within an epoch with interspike interval (ISI) below a given limit, usually 3 s, is returned as the SI. This is calculated during daytime and in non-REM sleep. The standard epoch length is 10 min. The parameter selection is discussed in the context of the influence of spikes and bursts on cognition. The described method gives reproducible results in routine use, gives clinical valuable information, and is easily implemented in a clinical setting. There is only a minor added workload for the electroencephalographer.
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| 16. |
- Laurell, Katarina, et al.
(författare)
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A 3-year follow-up of headache diagnoses and symptoms in Swedish schoolchildren
- 2006
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Ingår i: Cephalalgia. - : SAGE Publications. - 0333-1024 .- 1468-2982. ; 26:7, s. 809-815
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Tidskriftsartikel (refereegranskat)abstract
- Information is sparse concerning the incidence and prognosis of headache in children from the general population, especially of tension-type headache. In this study, headache diagnoses and symptoms were reassessed in 122 out of 130 schoolchildren after 3 years. Nearly 80% of those with headache at first evaluation still reported headache at follow-up. Although the likelihood of experiencing the same headache diagnosis and symptoms was high, about one-fifth of children with tension-type headache developed migraine and vice versa. Female gender predicted migraine and frequent headache episodes predicted overall headache at follow-up. The estimated average annual incidence was 81 and 65 per 1000 children, for tension-type headache and migraine, respectively. We conclude that there is a considerable risk of developing and maintaining headache during childhood. Headache diagnoses should be reassessed regularly and treatment adjusted. Girls and children with frequent headache have a poorer prognosis and therefore intervention is particularly important in these groups.
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| 17. |
- Laurell, Katarina, et al.
(författare)
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Headache in schoolchildren : association with other pain, family history and psychosocial factors
- 2005
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Ingår i: Pain. - : Elsevier. - 0304-3959 .- 1872-6623. ; 119:1-3, s. 150-158
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Tidskriftsartikel (refereegranskat)abstract
- Limited information exist about associations between different headache types and other pains, family history of pain, and psychosocial factors among children from the general population suffering from less severe headache. We interviewed 130 schoolchildren together with a parent to find out whether such factors differ between children with mainly infrequent and moderate migraine or tension-type headache as compared to those without primary headache. Children with headache, especially those with migraine reported other pains and physical symptoms more frequently than children without primary headache. Coherently, parents of children suffering from migraine reported their children to have significantly more somatic symptoms than parents of children without primary headache. In addition, first-degree relatives of children with headache suffered from more migraine, other pains, and physical symptoms compared with first-degree relatives of children without primary headache. Children with migraine visited the school nurse, used medication and were absent from school because of headache more often than those with tension-type headache. Few other differences in psychosocial factors were found between the three groups. Migraine among first-degree relatives and the total sum of physical symptoms in children were the strongest predictors of headache in logistic regression analysis. It is concluded that in schoolchildren with mainly infrequent and moderate headache, pain and physical symptoms cluster within individuals as well as their families, however, psychological and social problems are uncommon.
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| 18. |
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| 19. |
- Neubauer, Bernd A., et al.
(författare)
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KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes
- 2008
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Ingår i: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 0028-3878 .- 1526-632X. ; 71:3, s. 177-183
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To explore the involvement of M-type potassium channels KCNQ2, Q3, and Q5 in the pathogenesis of common idiopathic epilepsies. METHODS: Sequence analysis of the KCNQ2, Q3, and Q5 coding regions was performed in a screening sample consisting of 58 nuclear families with rolandic epilepsy. Subsequently, an association study was conducted for all discovered variants in a case-control sample comprising 459 German patients with idiopathic generalized epilepsy (IGE) and 462 population controls. RESULTS: An in-frame deletion of codon 116 in KCNQ2 (p.Lys116del) and a missense mutation in KCNQ3 (p.Glu299Lys) were detected in two index cases exhibiting rolandic epilepsy and benign neonatal convulsions. Both mutations resulted in reduced potassium current amplitude in Xenopus oocytes. Mutation analysis of families with rolandic epilepsy without neonatal seizures discovered three novel missense variations (KCNQ2 p.Ile592Met, KCNQ3 p.Ala381Val, KCNQ3 p.Pro574Ser). The KCNQ2 p.Ile592Met variant displayed a significant reduction of potassium current amplitude in Xenopus oocytes and was present only once in 552 controls. Both missense variants identified in KCNQ3 (p.Ala381Val and p.Pro574Ser) were present in all affected family members and did not occur in controls, but did not show obvious functional abnormalities. The KCNQ3 missense variant p.Pro574Ser was also detected in 8 of 455 IGE patients but not in 454 controls (p = 0.008). In KCNQ2, a silent single nucleotide polymorphism (rs1801545) was found overrepresented in both epilepsy samples (IGE, p = 0.004). CONCLUSION: Sequence variations of the KCNQ2 and KCNQ3 genes may contribute to the etiology of common idiopathic epilepsy syndromes.
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| 20. |
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