Cases reported "Seizures, Febrile"

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1/5. 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( ).
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keywords = wave
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2/5. Low frequency electrical stimulation through subdural electrodes in a case of refractory status epilepticus.

    OBJECTIVE: We delivered low frequency stimulation through subdural electrodes to suppress seizures in a case of refractory status epilepticus (RSE). methods: A 26-year-old female developed RSE after several days of febrile illness. Seizure control required continuous infusion of two anesthetics plus high doses of 2-4 enteral antiepileptic drugs. After 3 months of RSE, subdural strips were placed to determine surgical candidacy. Five independent ictal onset zones were identified. Because she was a poor candidate for epilepsy surgery and had a poor prognosis, the implanted subdural electrodes were used to administer 0.5 Hz stimulations to the ictal onset zones in 30 min trains daily for 7 consecutive days in an attempt to suppress seizures. RESULTS: After 1 day of stimulation, one anesthetic agent was successfully discontinued. seizures only returned by the 4th day when the second anesthetic had been reduced by 60%. Upon returning, seizures arose from only one of the 5 original ictal onset zones. Unfortunately, RSE persisted, and she eventually died. CONCLUSIONS: In this case of RSE, low frequency stimulation through subdural electrodes transiently suppressed seizures from all but one ictal onset zone and allowed significant reduction in seizure medication. SIGNIFICANCE: Low frequency cortical stimulation may be useful in suppressing seizures.
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keywords = frequency
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3/5. Periodic febrile confusion as a presentation of complex partial status epilepticus.

    A 75-year-old woman was evaluated for recurrent episodes of fever she experienced periodically every 4-5 weeks over the last 12 months, lasting 2-3 days each. The fever was associated with continuous complex partial seizures, paralleled the seizure activity and returned to normal after the seizures had ceased. The ictal EEG recordings showed rhythmic bitemporal 3-4 Hz activity; the interictal recordings showed a spike and wave discharge over the right fronto-temporal region. carbamazepine effectively controlled both the seizures and the fever; the latter was presumed to be an inherent manifestation of the seizure activity.
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4/5. trisomy 12p syndrome: a chromosomal disorder associated with generalized 3-Hz spike and wave discharges.

    Three cases (2 boys, 1 girl) of trisomy 12p syndrome are reported. In two, the disorder is caused by a malsegregation of a maternal translocation, the karyotype being 46,XY,der(18),t(12;18)(p11;q23) (case 2) and 46,XX,-10, der(10),t(10;12)(p15;p11) (case 3). Case 1 is a de novo case with a regular trisomy 12p in the fibroblasts: 47,XY (12pter   12 cen. . .?) and a mosaic trisomy 12p in lymphocytes: 46,XY/47,XY, (12pter   12 cen. . .?). In all cases, the EEG showed 3-Hz generalized spike and wave (SW) discharges. Generalized epilepsy with myoclonic seizures was present in two patients (cases 1 and 2), who may be considered to have a symptomatic generalized epilepsy with a specific etiology. Case 3 has shown only febrile seizures. Any association between the excess of genetic material and the EEG trait "generalized SW" might not be a chance occurrence in this disorder; however, both EEG findings and clinical features (seizure type and frequency) in the 23 cases reported in the literature are too scanty to allow confirmation of such an association.
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ranking = 5.0944115263898
keywords = wave, frequency
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5/5. neuronal migration disorders presenting with mild clinical symptoms.

    Two children with neuronal migration disorders and unexpectedly mild clinical symptoms are reported. The first patient was followed with the diagnosis of febrile convulsion and seizures associated with fever for 14 years. Computed tomography scans were normal. Although periodic slow waves of the left parietal cortex were detected on the first two electroencephalograms, his latest examination was normal. magnetic resonance imaging performed at 16 years of age disclosed a left parietal schizencephaly extending between the parietal cortex and corpus callosum. The second patient was followed with the diagnosis of febrile convulsion for 2 years and later experienced afebrile seizures. On his latest visit, a posterior parietal pachygyric region and a parieto-occipital island heterotopia on the left hemisphere were diagnosed by magnetic resonance imaging. We believe that review of these patients, at the mildest end of the clinical spectrum of neural migration disorders, will contribute to a new understanding of the correlation between clinical and pathologic findings of neuronal migration disorders.
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