Characteristics of the initial seizure in familial febrile seizures.
Complex seizure characteristics in patients with a positive family history were studied to define familial phenotype subgroups of febrile seizures. A total of 51 children with one or more affected first degree relatives and 177 without an affected first degree relative were compared for history of complex characteristics of the initial febrile seizure. No difference was found in the frequency of febrile status epilepticus (OR = 1.1 (95% confidence interval (CI) 0.3 to 4.3)), multiple type (OR = 0.6 (CI 0.3 to 1.2)), and focal characteristics (OR = 0.4 (CI 0.2 to 1.2)). The presence of any complex characteristic (OR = 0.5 (CI 0.3 to 1.0)) was higher in those without an affected first degree relative, although differences did not reach significance. The familial type of febrile seizures is not associated with complex characteristics of the initial febrile seizure. Complex seizure characteristics are unlikely to help in discriminating phenotype subgroups for genetic studies of febrile seizures. (+info)
Acute symptomatic seizures - incidence and etiological spectrum: a hospital-based study from South India.
We analysed the incidence and etiological spectrum of acute symptomatic seizures in 2531 patients with seizure disorder, both in-patients and out-patients, seen in a university hospital in South India. Seizure(s) occurred in close temporal association with an acute systemic, metabolic, or toxic insult or in association with an acute central nervous system (CNS) insult in 22.5% of patients. Of the 572 patients, 8% could be grouped under the International League Against Epilepsy (ILAE) category 4.1 and 92% under category 1.2. The seizure type was generalized in all the patients included in category 4.1 and 78% of patients grouped in category 2.1 had simple or complex partial seizure(s) with or without secondary generalization. Sixteen (3%) patients developed status epilepticus during the acute phase of illness and 7% of patients had only single seizure. Infections of the central nervous system (CNS) and single CT enhancing lesions (SCTEL) together accounted for 77% of the provoking factors in patients grouped under category 2.1. These two etiological factors together accounted for 95% of etiologies in patients aged under 16 years. SCTEL and neurocysticercosis together accounted for 67% of the provoking factors. In 14% of patients cerebrovascular diseases were the etiological factors and 60% of the patients were aged over 40 years. In patients with cerebrovascular diseases, aged under 40 years, cortical sinovenous thrombosis accounted for 37%. SCTEL was the provoking factor in 61% of patients with isolated seizure. Infections of CNS and SCTEL together accounted for 62.5% of etiological factors for status epilepticus. This study illustrates that the etiological spectrum of acute symptomatic seizures in this part of the world is different from that described from developed countries and CNS infections account for a significant number of cases. (+info)
Febrile seizures in the developing brain result in persistent modification of neuronal excitability in limbic circuits.
Febrile (fever-induced) seizures affect 3-5% of infants and young children. Despite the high incidence of febrile seizures, their contribution to the development of epilepsy later in life has remained controversial. Combining a new rat model of complex febrile seizures and patch clamp techniques, we determined that hyperthermia-induced seizures in the immature rat cause a selective presynaptic increase in inhibitory synaptic transmission in the hippocampus that lasts into adulthood. The long-lasting nature of these potent alterations in synaptic communication after febrile seizures does not support the prevalent view of the 'benign' nature of early-life febrile convulsions. (+info)
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.
We report a clinical and genetic study of a family with a phenotype resembling generalized epilepsy with febrile seizures plus (GEFS+), described by Berkovic and colleagues. Patients express a very variable phenotype combining febrile seizures, generalized seizures often precipitated by fever at age >6 years, and partial seizures, with a variable degree of severity. Linkage analysis has excluded both the beta 1 subunit gene (SCN1B) of a voltage-gated sodium (Na+) channel responsible for GEFS+ and the two loci, FEB1 and FEB2, previously implicated in febrile seizures. A genomewide search, under the assumption of incomplete penetrance at 85% and a phenocopy rate of 5%, permitted identification of a new locus on chromosome 2q21-q33. The maximum pairwise LOD score was 3.00 at recombination fraction 0 for marker D2S2330. Haplotype reconstruction defined a large (22-cM) candidate interval flanked by markers D2S156 and D2S2314. Four genes coding for different isoforms of the alpha-subunit voltage-gated sodium channels (SCN1A, SCN2A1, SCN2A2, and SCN3A) located in this region are strong candidates for the disease gene. (+info)
Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.
We report the identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+). Six family members manifested isolated typical febrile seizures (FS), and five had typical FS associated with generalized epilepsy (FS+, generalized tonic/clonic seizures). Afebrile seizures occurred from childhood until the teenage years. The maximum two-point LOD score was 3.99 for markers D2S294 and D2S2314. Flanking markers place the GEFS+ locus between D2S141 and D2S116, with multipoint analysis favoring the 13-cM interval spanned by D2S294 and D2S364. This locus is the second GEFS+ locus to be reported, which suggests that this syndrome is genetically heterogeneous. (+info)
Emergency cranial computed tomography in the management of acute febrile encephalopathy in children.
OBJECTIVE: Evaluation of the influence of emergency cranial computed tomography on the management of acute febrile encephalopathy in children. METHODS: A retrospective study in children with acute febrile encephalopathy who underwent emergency cranial computed tomography within 12 hours of admission to the paediatric intensive care unit. All scans were evaluated by two independent radiologists. RESULTS: Thirty nine children were included. Fourteen scans were abnormal and two had clinically insignificant incidental findings. Four children with focal neurological signs had scans demonstrating extra-axial collections. None required neurosurgical intervention. Clinically, raised intracranial pressure was present in 10 patients. Only five had cerebral oedema on computed tomography; these five children died. Emergency cranial computed tomography influenced subsequent management in no child without focal neurological signs and in only one child with focal neurology. CONCLUSION: Emergency cranial computed tomography in acute febrile encephalopathy in children without focal neurological signs has little influence on subsequent management. Where cranial computed tomography is thought to be necessary, it should be carried out when the child's clinical condition has been stabilised. (+info)
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.
Febrile seizures (FSs) represent the most common form of childhood seizure. In the Japanese population, the incidence rate is as high as 7%. It has been recognized that there is a significant genetic component for susceptibility to this type of seizure. Two putative FS loci, FEB1 (chromosome 8q13-q21) and FEB2 (chromosome 19p), have been mapped. Furthermore, a mutation in the voltage-gated sodium (Na(+))-channel beta1 subunit gene ( SCN1B ) at chromosome 19q13.1 was identified in a family with a clinical subset, termed generalized epilepsy with febrile seizures plus (GEFS(+)). These loci are linked to some large families. In this study, we conducted a genome-wide linkage search for FS in one large family with subsequent linkage confirmation in 39 nuclear families. Significant linkage was found at D5S644 by multipoint non-parametric analysis using GENEHUNTER ( P = 5.4 x 10(-6)). Estimated lambda(s)at D5S644 was 2.5 according to maximum likelihood analysis. Significant linkage disequilibria with FS were observed at the markers D5S644, D5S652 and D5S2079 in 47 families by transmission disequilibrium tests. These findings indicate that there is a gene on chromosome 5q14-q15 that confers susceptibility to FSs and we call this gene FEB4. (+info)
Effects of information on parental knowledge of febrile convulsions.
The purpose of this study was to study the effects of giving information to parents with febrile convulsive children. All parents of children with febrile convulsions who are seen at Worcester Royal Infirmary are given information. Fifty parents of children who had had a first febrile convulsion during May 1996 to December 1996 were interviewed by telephone from July to September 1997. The same questions were asked of 50 parents of children who came to a community health clinic and who had not had febrile convulsions. The design used open questions and covered medical history, general child health knowledge and knowledge of febrile convulsion. The answers were compared using a chi-squared test (significance level P < 0.05). Possible confounding factors were tested by a correlation test. No difference was found between the two groups in family structure, housing, and general child health knowledge. Information about febrile convulsions was retained by informed parents. Both groups thought the given information was useful and should be written in the child health record book. Information about febrile convulsions was remembered by parents. (+info)