1/28. Extensive brain calcification in two children with bilateral Coats' disease.We report two children with bilateral Coats' disease associated with cerebral calcifications in the basal ganglia and deep white matter, asymptomatic at the time of their discovery. cerebellar ataxia developed secondarily in one of them. Both children were born small for date and had febrile convulsive seizures. Three similar patients have been previously reported, two of them in the same sibship; the third reported patient died of aplastic anemia. Bilateral Coats' disease in children should prompt systematic CT scan in search of cerebral calcifications. If present, neurological and genetic prognosis should be cautious.- - - - - - - - - - ranking = 1keywords = gene (Clic here for more details about this article) |
2/28. Severe myoclonic epilepsy of infancy: extended spectrum of GEFS ?PURPOSE: Severe myoclonic epilepsy of infancy (SMEI) is an intractable epilepsy of early childhood of unknown etiology. It is often associated with a family history of seizure disorders, but epilepsy phenotypes have not been well described. We sought to characterize the seizure phenotypes of relatives to better understand to the genetic basis of SMEI. methods: Probands with SMEI were identified, and systematic family studies were performed. epilepsy syndromes were characterized in affected family members. RESULTS: Twelve probands with SMEI were identified. Eleven of the 12 probands with SMEI had a family history of seizures, and the twelfth was the result of a consanguineous marriage. We found that 16.7% of full siblings and 8.3% of parents had definite seizures. A total of 39 affected family members was identified. The most common phenotype was febrile seizures in 14, febrile seizures plus in seven, partial epilepsy in two, and there were single individuals with SMEI, myoclonic-astatic epilepsy, Lennox-Gastaut syndrome, and 13 cases with unclassified or unconfirmed seizures. CONCLUSIONS: The family history of seizures in SMEI is in keeping with the spectrum of seizure phenotypes seen in generalized epilepsy with febrile seizures plus (GEFS ). Our findings suggest that SMEI is the most severe phenotype in the GEFS spectrum.- - - - - - - - - - ranking = 2keywords = gene (Clic here for more details about this article) |
3/28. Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family.BACKGROUND: Generalized epilepsy with febrile seizures plus (GEFS( )) is a recently described benign childhood-onset epileptic syndrome with autosomal dominant inheritance. The most common phenotypes are febrile seizures (FS) often with accessory afebrile generalized tonic-clonic seizures (GTCS, FS( )). In about one third, additional seizure types occur, such as absences, myoclonic, or atonic seizures. So far, three mutations within genes encoding subunits of neuronal voltage-gated Na( ) channels have been found in GEFS( ) families, one in SCN1B (beta(1)-subunit) and two in SCN1A (alpha-subunit). methods: The authors examined the phenotypic variability of GEFS( ) in a five-generation German family with 18 affected individuals. genetic linkage analysis was performed to exclude candidate loci. RESULTS: Inheritance was autosomal dominant with a penetrance of about 80%. A variety of epilepsy phenotypes occurred predominantly during childhood. Only four individuals showed the FS or FS( ) phenotype. The others presented with different combinations of GTCS, tonic seizures, atonic seizures, and absences, only in part associated with fever. The age at onset was 2.8 /- 1.3 years. Interictal EEG recordings showed rare, 1- to 2-second-long generalized, irregular spike-and-wave discharges of 2.5 to 5 Hz in eight cases and additional focal parietal discharges in one case. Linkage analysis excluded the previously described loci on chromosomes 2q21-33 and 19q13. All other chromosomal regions containing known genes encoding neuronal Na( ) channel subunits on chromosomes 3p21-24, 11q23, and 12q13 and described loci for febrile convulsions on chromosomes 5q14-15, 8q13-21, and 19p13.3 were also excluded. CONCLUSION: These results indicate further clinical and genetic heterogeneity in GEFS( ).- - - - - - - - - - ranking = 11keywords = gene (Clic here for more details about this article) |
4/28. Influenza encephalopathy associated with infection with human herpesvirus 6 and/or human herpesvirus 7.Influenza-associated encephalopathy is often reported in young Japanese children, but its pathogenesis is unknown. Although influenza virus can be demonstrated by throat culture for patients with encephalopathy, cultures of samples of cerebrospinal fluids (CSF) do not yield the virus. Eight patients with encephalopathy or complicated febrile convulsions had influenza virus infection diagnosed by means of culture, polymerase chain reaction (PCR), or rapid diagnosis using throat swabs. In all 8 cases, the results of PCR testing of CSF specimens for influenza virus were negative. On the other hand, human herpesvirus 6 (HHV-6) dna was demonstrated in CSF specimens obtained from 2 of 8 patients. In 3 of 8 patients, the presence of human herpesvirus 7 (HHV-7) dna was demonstrated in CSF specimens. Some cases of influenza-associated encephalopathy reported in japan may be attributable to a dual infection with influenza virus and HHV-6, -7, or both. Another possibility is that latent HHV-6 or HHV-7 in the brain is reactivated by influenza, causing encephalopathy or febrile convulsions.- - - - - - - - - - ranking = 1keywords = gene (Clic here for more details about this article) |
5/28. Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na )-channel alpha 1 subunit gene, SCN1A.Evidence that febrile seizures have a strong genetic predisposition has been well documented. In families of probands with multiple febrile convulsions, an autosomal dominant inheritance with reduced penetrance is suspected. Four candidate loci for febrile seizures have been suggested to date; FEB1 on 8q13-q21, FEB2 on 19p, FEB3 on 2q23-q24, and FEB4 on 5q14-15. A missense mutation was identified in the voltage-gated sodium (Na( ))-channel beta 1 subunit gene, SCN1B at chromosome 19p13.1 in generalized epilepsy with the febrile seizures plus type 1 (GEFS 1) family. Several missense mutations of the (Na( ))-channel alpha 1 subunit (Nav1.1) gene, SCN1A were also identified in GEFS 2 families at chromosome 2q23-q24.3. The aim of this report is precisely to describe the phenotypes of Japanese patients with novel SCN1A mutations and to reevaluate the entity of GEFS . Four family members over three generations and one isolated (phenotypically sporadic) case with SCN1A mutations were clinically investigated. The common seizure type in these patients was febrile and afebrile generalized tonic-clonic seizures (FS ). In addition to FS , partial epilepsy phenotypes were suspected in all affected family members and electroencephalographically confirmed in three patients of two families. GEFS is genetically and clinically heterogeneous, and associated with generalized epilepsy and partial epilepsy as well. The spectrum of GEFS should be expanded to include partial epilepsies and better to be termed autosomal dominant epilepsy with febrile seizures plus (ADEFS ).- - - - - - - - - - ranking = 13keywords = gene (Clic here for more details about this article) |
6/28. Hemiconvulsion-hemiplegia-epilepsy syndrome: characteristic early magnetic resonance imaging findings.We report three patients with hemiconvulsion-hemiplegia-epilepsy syndrome who presented acutely and were shown to have striking neuroimaging findings suggestive of diffuse cytotoxic edema confined to one hemisphere, including extensive diffusion-weighted imaging abnormalities in two cases. Two patients subsequently developed progressive and extensive atrophy of the involved hemisphere. These findings are consistent with earlier descriptions of the classic neuroradiologic features of this syndrome and are helpful in the differential diagnosis of acute infantile hemiplegia. Further, the findings support the previously proposed pathogenetic mechanism of neuronal injury caused by status epilepticus.- - - - - - - - - - ranking = 1keywords = gene (Clic here for more details about this article) |
7/28. Clinical and EEG analysis of initial status epilepticus during infancy in patients with mesial temporal lobe epilepsy.This study investigated the clinical and EEG characteristics of initial status epilepticus (SE) during infancy in patients with mesial temporal lobe epilepsy (MTLE). The subjects were six patients who had been brought to our emergency clinic and treated for their initial SE between 1977 and 1988, and later developed MTLE. We reviewed the medical records and laboratory findings at the time of the initial SE, and the clinical evolution up to the development of MTLE. The six patients included four females and two males. The initial SE developed at ages ranging from 7 months to 2 years and 9 months with a mean of 1 year and 2 months. These episodes were characterized by an elevated temperature of more than 38 degrees C (4/6 cases), clusters of prolonged seizures during one episode of SE (4/6 cases), long-lasting SE (120-380 min, mean 227 min, 6/6 cases), postictal prolonged loss of consciousness (median 5 h, 6/6 cases), and the presence of Todd's paralysis (3/6 cases). The lateralization of the ictal or postictal EEGs of the SE in five of the six cases was identical to that of the hippocampal atrophy later confirmed by MRI. Follow-up EEG examinations at a 6 month interval demonstrated temporal spike discharges appearing only after the onset of complex partial seizures. Two patients, who had no fever at the initial SE, were characterized by a very early appearance of epileptic EEG abnormality and a short interval between the initial SE and the development of complex partial seizures, suggesting that the SE was the first epileptic manifestation. The result of this study showed that SE progressing to MTLE tends to have complicated clinical manifestations characterized by clusters of unilateral or generalized SE followed by prolonged postictal unconsciousness, generalized clinical manifestations despite lateralized ictal EEG discharges, and the Todd's paresis in addition to the prolonged seizure duration.- - - - - - - - - - ranking = 2keywords = gene (Clic here for more details about this article) |
8/28. Clinical and genetic analysis of a new multigenerational pedigree with GEFS (Generalized epilepsy with Febrile seizures Plus).Febrile seizures affect 2-5% of all children younger than 6 years. A small proportion of children with febrile seizures later develop epilepsy. The syndrome of generalized epilepsy with febrile seizures plus (GEFS ) is a heterogeneous disorder characterized by febrile seizures that may persist beyond age 6 years and nonfebrile seizures. Several genes have been localized for FS by linkage analysis, and three GEFS genes (SCN1A, SCN1B, GABRG2) have been identified. We identified a large multigenerational family with GEFS in france. All affected members had FSs. Among them, seven had other types of epileptic seizures including FSs after age 6 years, nonfebrile generalized seizures, or partial seizures later in life. genetic linkage study excluded the candidate genes and loci for FS and GEFS , thus proving the existence of a new GEFS genetic locus underlying the phenotype observed in this family.- - - - - - - - - - ranking = 16keywords = gene (Clic here for more details about this article) |
9/28. First place winner. Recurrent febrile seizures: an unusual presentation of nutritional rickets.Nutritional rickets is a serious disease that is infrequently encountered in the united states today because of the fortification of infant formulas and dairy products with vitamin d. We report a case of undiagnosed nutritional rickets presenting with recurrent febrile seizures. Febrile seizures, a common and usually benign presenting complaint, are not among the symptoms generally known to be associated with rickets. Therefore, the disease was uncovered only after a careful history and physical examination prompted a more thorough investigation into an underlying cause for recurrent seizures. The diagnosis was subsequently confirmed by quantitative laboratory testing. We review the historical and cultural factors, symptoms, and physical findings suggestive of this potentially serious yet easily treatable disease.- - - - - - - - - - ranking = 1keywords = gene (Clic here for more details about this article) |
10/28. 3-methylglutaconic aciduria type I in a boy with fever-associated seizures.3-Methylglutaconic-aciduria type I (MGA1, OMIM 250950) resulting from 3-Methylglutaconyl-coenzyme a hydratase deficiency is a rare inherited metabolic disorder of l-leucine catabolism. We diagnosed this condition in a 4-year-old German male with generalized fever-associated seizures from the age of 12 months and normal psychomotor development. First he was considered to suffer from uncomplicated febrile seizures. After his eighth seizure, laboratory investigations were performed to exclude inborn errors of metabolism. Analysis of organic acids in urine indicated highly elevated concentrations of 3-methylglutaconic and 3-hydroxyisovaleric acids. 3-Methylglutaconyl-coenzyme a hydratase activity was markedly decreased in skin fibroblasts. mutation analysis in the AUH gene revealed homozygosity for a novel splice site mutation IVS9-2A>G. We conclude that MGA1 may be associated with fever-associated seizures even in children without delayed psychomotor development.- - - - - - - - - - ranking = 2keywords = gene (Clic here for more details about this article) |
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