SEARCH · PubMed Health

Results for “TLE”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 55 records · Page 3Linked to original sources

PubMed2006

Impaired baroreflex function in temporal lobe epilepsy.

Changes of cardiovascular function are frequent in temporal lobe epilepsy (TLE). The baroreflex - the most important reflex for cardiovascular stability - has not been studied systematically in TLE. We evaluated cardiovascular variability and baroreflex function in TLE. In 22 TLE patients and 20 controls, we continuously monitored heart rate (HR) and blood pressure (BP). Time-domain parameters were derived from recordings at rest and from standard cardiovascular reflex tests. Spectral analysis determined sympathetic and parasympathetic modulation of HR and BP in the low (LF-power) and high frequency range (HF-power). We calculated the relative LF- and HF-powers of HR in relation to the sum of LF- and HF-powers. LF/HF-ratio of HR was assessed as a parameter of sympatheticovagal balance. LF-transfer function gain between BP and HR determined baroreflex function.Time-domain parameters did not differ between TLE patients and controls. Spectral analysis showed decreased absolute LF- and HF-powers but increased relative LF-power and LF/HF-ratio of HR in TLE. LF-transfer function gain between BP and HR was reduced in TLE (p<0.05). The reduction of absolute LF- and HF-powers indicates decreased total autonomic variability in TLE. However, increased relative LF-power and LF/HF-ratio of HR in TLE show a relative increase of sympathetic tone. Most importantly, we demonstrate an impaired baroreflex function in TLE. These cardiovascular autonomic abnormalities may contribute to cardiac arrhythmia in TLE.

Adult↗

PubMed2003

Quantitative fMRI assessment of the differences in lateralization of language-related brain activation in patients with temporal lobe epilepsy.

Defining language lateralization is important to minimize morbidity in patients treated surgically for temporal lobe epilepsy (TLE). Functional magnetic resonance imaging (fMRI) offers a promising, noninvasive, alternative strategy to the Wada test. Here we have used fMRI to study healthy controls and patients with TLE in order to (i) define language-related activation patterns and their reproducibility; (ii) compare lateralization determined by fMRI with those from of the Wada test; and (iii) contrast different methods of assessing fMRI lateralization. Twelve healthy right-handed controls and 19 right-handed preoperative patients with TLE (12 left- and seven right-TLE) were studied at 3T using fMRI and a verbal fluency paradigm. A Wada test also was performed on each of the patients. Greater activation was found in several areas in the right hemisphere for the left-TLE group relative to controls or right-TLE patients. Relative hemispheric activations calculated based on either the extent or the mean signal change gave consistent results showing a more bihemispheric language representation in the left-TLE patients. There was good agreement between the Wada and fMRI results, although the latter were more sensitive to involvement of the nondominant right hemisphere. The reproducibility of the fMRI values was lowest for the more bihemispherically represented left-TLE patients. Overall, our results further demonstrate that noninvasive fMRI measures of language-related lateralization may provide a practical and reliable alternative to invasive testing for presurgical language lateralization in patients with TLE. The high proportion (33%) of left-TLE patients showing bilateral or right hemispheric language-related lateralization suggests that there is considerable plasticity of language representation in the brains of patients with intractable TLE.

Adolescent↗

PubMed2003

Myoinositol abnormalities in temporal lobe epilepsy.

PURPOSE: This study used magnetic resonance spectroscopy (MRS) to examine metabolite abnormalities in the temporal and frontal lobe of patients with temporal lobe epilepsy (TLE) of differing severity. METHODS: We investigated myoinositol in TLE by using short-echo MRS in 34 TLE patients [26 late onset (LO-TLE), eight hippocampal sclerosis (HS-TLE)], and 16 controls. Single-voxel short-echo (35 ms) MR spectra of temporal and frontal lobes were acquired at 1.5 T and analyzed by using LCModel. RESULTS: The temporal lobe ipsilateral to seizure origin in HS-TLE, but not LO-TLE, had reduced N-acetylaspartate (NA) and elevated myoinositol (MI; HS-TLE NA, 7.8 +/- 1.9 mM, control NA, 9.2 +/- 1.3 mM; p < 0.05; HS-TLE MI, 6.1 +/- 1.6 mM, control mI 4.9 +/- 0.8 mM, p< 0.05). Frontal lobe MI was low in both patient groups (LO-TLE, 4.3 +/- 0.8 mM; p < 0.05; HS-TLE, 3.6 +/-.05 mM; p < 0.001; controls, 4.8 +/- 0.5 mM). Ipsilateral frontal lobes had lower MI (3.8 +/- 0.7 mM; p < 0.01) than contralateral frontal lobes (4.3 +/- 0.8 mM; p < 0.05). CONCLUSIONS: MI changes may distinguish between the seizure focus, where MI is increased, and areas of seizure spread where MI is decreased.

Adult↗

PubMed1998

Postictal nosewiping lateralizes and localizes to the ipsilateral temporal lobe.

PURPOSE: We observed many patients with temporal lobe epilepsy (TLE) wiping their nose postictally, usually with the hand ipsilateral to their seizure focus. We wished to determine if this had lateralizing or localizing significance. METHODS: We retrospectively studied 87 patients: 47 with unilateral TLE defined by successful surgical outcome [30 with medial TLE (MTLE) and 17 with neocortical TLE (neoTLE)]; and 40 with extratemporal epilepsy (ExTLE). Videotapes of 319 complex partial seizures (CPS) without generalization were reviewed by 1 neurologist, blinded to patient identity, who recorded each episode of nosewiping and the hand with which it was performed. RESULTS: With regard to localizing potential, postictal nosewiping (PINW) was significantly more common in patients with unilateral TLE than in those with ExTLE. In the TLE group, PINW within 60 s of electrographic seizure offset occurred in 60% of patients (28 of 47) and 43% of seizures (74 of 171). In the ExTLE group, PINW was noted in 33% of patients (13 of 40; p < 0.05 as compared with TLE) and 15% of seizures (22 of 148; p < 0.001). Similar results were obtained with PINW within 30 s of seizure offset. Although PINW was more frequent in MTLE than in neoTLE (67% of patients vs. 47%), this finding did not reach significance. With regard to lateralizing potential, in the TLE group, unilateral PINW (performed with a single hand only) within 60 s of seizure offset was observed in 53% of patients (25 of 47) and was performed with the hand ipsilateral to the seizure focus in 92% (23 of 25). Thirteen patients (9 with TLE) wiped their nose more than once with the same hand in a single seizure within 60 s of offset in 18 seizures; this was done with the hand ipsilateral to the seizure focus in all 18 instances (predictive value = 100%). CONCLUSIONS: PINW is more common in unilateral TLE, particularly MTLE, than in ExTLE. PINW performed exclusively with one hand occurs in approximately 50% of patients with TLE and is highly predictive (92%) of seizure onset ipsilateral to the hand used, especially when it occurs repetitively. We hypothesize that ictal activation of the central autonomic nervous system, particularly the amygdala, results in ictal nasal secretions and causes nosewiping as the patient regains awareness postictally. The ipsilateral hand is used due to contralateral neglect or weakness.

Amygdala↗

PubMed2002

Heart rate dynamics in refractory and well controlled temporal lobe epilepsy.

OBJECTIVES: Disorders of cardiovascular and other autonomic nervous system functions are often found in patients with temporal lobe epilepsy (TLE). Cardiovascular dysregulation in TLE has previously been quantified assessing traditional time and frequency domain measures of heart rate (HR) variability from short term ECG recordings. However, new complexity and fractal measures of HR variability based on non-linear dynamics and fractals ("chaos theory") may disclose certain patterns of HR dynamics that cannot be detected using only conventional measures. METHODS: In addition to the traditional spectral and non-spectral components of HR variability, fractal correlation properties, approximate entropy (ApEn) of RR interval dynamics, and the slope of the power law relation were measured from 24 hour ambulatory ECG recordings to evaluate interictal autonomic cardiovascular regulatory function in 19 patients with refractory TLE, 25 patients with well controlled TLE, and in 34 healthy age and sex matched control subjects. RESULTS: The traditional time and frequency domain measures were lower in patients with TLE than in controls (p<0.05). In addition, the power law slope (p<0.005) and ApEn (p<0.05) were also reduced in TLE patients. Furthermore, ApEn was smaller in patients with refractory TLE than in patients with well-controlled TLE ( p<0.01), whereas the long term fractal correlation value alpha2 was lower in patients with well controlled TLE (p<0.05). An altered HR variation was not associated with any particular AED regimen. CONCLUSIONS: In addition to reduced overall HR variability, the long term fractal organisation and complexity of HR dynamics seem to be altered in TLE. These abnormalities in HR behaviour may partly contribute to the occurrence of adverse cardiovascular events, such as life threatening arrhythmias in patients with TLE.

Adult↗

PubMed2004

MRI-negative PET-positive temporal lobe epilepsy: a distinct surgically remediable syndrome.

Most patients with non-lesional temporal lobe epilepsy (NLTLE) will have the findings of hippocampal sclerosis (HS) on a high resolution MRI. However, a significant minority of patients with NLTLE and electroclinically well-lateralized temporal lobe seizures have no evidence of HS on MRI. Many of these patients have concordant hypometabolism on fluorodeoxyglucose-PET ([18F]FDG-PET). The pathophysiological basis of this latter group remains uncertain. We aimed to determine whether NLTLE without HS on MRI represents a variant of or a different clinicopathological syndrome from that of NLTLE with HS on MRI. The clinical, EEG, [18F]FDG-PET, histopathological and surgical outcomes of 30 consecutive NLTLE patients with well-lateralized EEG but without HS on MRI (HS-ve TLE) were compared with 30 consecutive age- and sex-matched NLTLE patients with well-lateralized EEG with HS on MRI (HS+ve TLE). Both the HS+ve TLE group and the HS-ve TLE patients had a high degree of [18F]FDG-PET concordant lateralization (26 out of 30 HS-ve TLE versus 27 out of 27 HS+ve TLE). HS-ve TLE patients had more widespread hypometabolism on [18F]FDG-PET by blinded visual analysis [odds ratio (OR = + infinity (2.51, -), P = 0.001]. The HS-ve TLE group less frequently had a history of febrile convulsions [OR = 0.077 (0.002-0.512), P = 0.002], more commonly had a delta rhythm at ictal onset [OR = 3.67 (0.97-20.47), P = 0.057], and less frequently had histopathological evidence of HS [OR = 0 (0-0.85), P = 0.031]. There was no significant difference in surgical outcome despite half of those without HS having a hippocampal-sparing procedure. Based on the findings outlined, HS-ve PET-positive TLE may be a surgically remediable syndrome distinct from HS+ve TLE, with a pathophysiological basis that primarily involves lateral temporal neocortical rather than mesial temporal structures.

Adult↗

PubMed1999

Learning and memory impairment in patients with temporal lobe epilepsy: relation to the presence, type, and location of brain lesion.

PURPOSE: To study the influence of epileptogenic lesions on learning and memory alterations in patients with temporal lobe epilepsy (TLE). METHODS: We studied 131 patients (55 with left and 39 with right lesional TLE; 22 with left and 15 with right cryptogenic TLE) and 36 healthy subjects. We compared these groups by using a battery of tests to assess verbal and visual learning, delayed recall, and recall after the imposition of interfering activity. RESULTS: Compared with the controls and patients with right TLE, the patients with left TLE were significantly impaired on all verbal tests. On visual tests, patients with right TLE were impaired compared with controls but not more so than patients with left TLE. Separate multivariate analyses of variance (MA-NOVAs) of patients' verbal and visual test scores, taking the TLE side and morphologic features of the temporal lobes (i.e., normal, hippocampal sclerosis, low-grade glioma, or cavernous angioma) as independent factors, did not show any significant effect of these features. Separate comparisons of verbal and visual test scores of patients with lesional TLE, taking the side and location (mesial or lateral) of the epileptogenic lesion as independent factors, did not show any significant effect of location. CONCLUSIONS: Our findings show that some learning and memory abilities are impaired in patients with TLE irrespective of the presence of overt damage. This supports the theory that focal epileptic discharges, rather than the lesions themselves, affect these functions. The pathologic characteristics and intratemporal location of an associated lesion do not seem to play an important role in determining learning and memory impairment when clinical and treatment-related factors are taken into account.

Brain Diseases↗

PubMed2005

Interictal language functions in temporal lobe epilepsy.

OBJECTIVE: To evaluate interictal language functions in patients with medically intractable left and right sided mesial temporal lobe epilepsy (TLE). METHODS: Spontaneous speech, language comprehension, confrontation naming, repetition, reading, writing, and word fluency were examined in 12 patients with left sided TLE and 11 patients with right sided TLE. RESULTS: Four patients out of 23 displayed language deficits in more than one language domain. Three further patients exhibited isolated language deficits. Linguistic deficits were observed in both left TLE and right TLE. In quantitative analyses left and right TLE only differed in spontaneous speech (p = 0.02); no difference was found in other language functions, laterality quotient of Wada test, or overall IQ. Qualitative error analysis of object naming, however, showed typical errors associated only with left TLE. Patients with linguistic deficits were older at testing compared to patients without linguistic deficits (p = 0.003), whereas other factors including side of TLE, handedness, educational level, age at epilepsy onset, and duration of epilepsy did not differ between groups. CONCLUSIONS: Possible explanations for these findings include neuronal cell loss and deafferentiation in cortical areas, and disruption of the basal temporal language area pathways. Our study suggests that some patients with chronic mesial TLE exhibit linguistic deficits when specifically tested, and underlines the need to routinely investigate linguistic functions in TLE.

Adult↗

PubMed2004

LGI1 mutations in temporal lobe epilepsies.

BACKGROUND AND OBJECTIVES: A number of familial temporal lobe epilepsies (TLE) have been recently recognized. Mutations in LGI1 (leucine-rich, glioma-inactivated 1 gene) have been found in a few families with the syndrome of autosomal dominant partial epilepsy with auditory features (ADPEAF). The authors aimed to determine the spectrum of TLE phenotypes with LGI1 mutations, to study the frequency of mutations in ADPEAF, and to examine the role of LGI1 paralogs in ADPEAF without LGI1 mutations. METHODS: The authors performed a clinical and molecular analysis on 75 pedigrees comprising 54 with a variety of familial epilepsies associated with TLE and 21 sporadic TLE cases. All were studied for mutations in LGI1. ADPEAF families negative for LGI1 mutations were screened for mutations in LGI2, LGI3, and LGI4. RESULTS: Four families had ADPEAF, 22 had mesial TLE, 11 had TLE with febrile seizures, two had TLE with developmental abnormalities, and 15 had various other TLE syndromes. LGI1 mutations were found in two of four ADPEAF families, but in none of the other 50 families nor in the 21 individuals with sporadic TLE. The mutations were novel missense mutations in exons 1 (c.124T-->G; C42G) and 8 (c.1418C-->T; S473L). No mutations in LGI2, LGI3, or LGI4 were found in the other two ADPEAF families. CONCLUSION: In TLE, mutations in LGI1 are specific for ADPEAF but do not occur in all families. ADPEAF is genetically heterogeneous, but mutations in LGI2, LGI3, or LGI4 did not account for families without LGI1 mutations.

Adult↗

PubMed1993

Studies on the autonomic nervous function in Tsukuba emotional rats--with special reference to their cardiac function.

Autonomic nervous function in Tsukuba high (THE) and low (TLE) emotional rats as well as Wistar rats (control) was studied by means of electrocardiographical examination in addition to the runway test. In the runway test, locomotive activity differed significantly among the three strains, the greatest activity in TLE and the smallest in THE. Electrocardiogram (ECG) and locomotive activity were successively recorded for 24 hr using a small size of telemeter system. Though the locomotive activity showed a clear nocturnal rhythm, no significant difference was observed among the three strains. The mean value of R-R intervals in THE tended to be smaller than those in other two strains; showing a significant difference between THE and TLE. The mean value of standard deviation (SD) of R-R intervals in TLE tended to be larger than those in other two strains; showing a significant difference between TLE and Wistar in the light and dark periods, and also between TLE and THE in the light period. As regards coefficients of variation of R-R intervals (CV), there was no significant difference among the three strains. Autonomic nervous tone in THE and TLE was evaluated by means of autonomic blockades using atropine and/or propranolol. The sympathetic nervous tone represented 21.6% in THE and 16.8% in TLE, while the parasympathetic nervous tone -9.0% and -12.3% in THE and TLE, respectively. There was a significant difference in the net autonomic nervous tone between THE (10.7%) and TLE (-6.6%).(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗

PubMed2000

Interleukin (IL)1beta, IL-1alpha, and IL-1 receptor antagonist gene polymorphisms in patients with temporal lobe epilepsy.

Proinflammatory cytokines, including interleukin (IL)-1beta, are known to modulate effects of neurotoxic neurotransmitters discharged during excitation or inflammation in the central nervous system (CNS). They also regulate development of glial scars at sites of CNS injury. To elucidate a genetic predisposition of temporal lobe epilepsy with hippocampal sclerosis (TLE-HS+), we studied polymorphisms in the IL-1beta, IL-1alpha, and IL-1 receptor antagonist (IL-1RA) genes in 50 patients with TLE-HS+ and in 112 controls. Fifty-three patients who had TLE without HS were also examined (TLE-HS-) as disease controls. The distribution of the biallelic polymorphism in the promoter region at position -511 of the IL-1beta gene (IL-1B-511) was significantly different both between TLE-HS+ patients and controls and between TLE-HS+ and TLE-HS- patients. The differences were due to overrepresentation of the homozygotes for IL-1B-511*2, which is suggested to be a high producer of IL-1beta, in TLE-HS+ patients compared with both controls and TLE-HS- patients. In contrast, there was no difference between TLE-HS- patients and controls. Our data suggest that, in the homozygotes for IL-IB-511*2, minor events in development such as febrile convulsions could set up a cascade leading to HS.

Adult↗

PubMed2000

Glutamate and gamma-aminobutyric acid content and release of synaptosomes from temporal lobe epilepsy patients.

During surgical intervention in medically refractory temporal lobe epilepsy (TLE) patients, diagnosed with either mesial temporal lobe sclerosis (MTS)- or tumor (T)-associated TLE, biopsies were taken from the anterior temporal neocortex and the hippocampal region. Synaptosomes, isolated from these biopsies were used to study intrasynaptosomal Ca(2+) levels ([Ca(2+)](i)), and glutamate and gamma-aminobutyric acid (GABA) contents and release. All synaptosomal preparations demonstrated a basal [Ca(2+)](i) of about 200 nM, except neocortical synaptosomes from MTS-associated TLE patients (420 nM). K(+)-induced depolarization resulted in a robust increase of the basal [Ca(2+)](i) in all preparations. Neocortical synaptosomes from TLE patients contained 22.9 +/- 3.0 nmol glutamate and 4.6 +/- 0.5 nmol GABA per milligram synaptosomal protein, whereas rat cortical synaptosomes contained twice as much glutamate and four times as much GABA. Hippocampal synaptosomes from MTS-associated TLE patients, unlike those from T-associated TLE patients, contained about 70% less glutamate and 55% less GABA than neocortical synaptosomes. Expressed as percentage of total synaptosomal content, synaptosomes from MTS-associated TLE patients exhibited an increased basal and a reduced K(+)-induced glutamate and GABA release compared to rat cortical synaptosomes. In MTS-associated TLE patients, only GABA release from neocortical synaptosomes was partially Ca(2+)-dependent. Control experiments in rat synaptosomes demonstrated that at least part of the reduction in K(+)-induced release can be ascribed to resection-induced hypoxia in biopsies. Thus, synaptosomes from MTS-associated TLE patients exhibit a significant K(+)-induced increase in [Ca(2+)](i), but the consequent release of glutamate and GABA is severely impaired. Our data show that at least part of the differences in glutamate and GABA content and release between human biopsy material and fresh rat tissue is due to the resection time.

Animals↗

PubMed1995

The roles of semantic networks and search efficiency in verbal fluency performance in intractable temporal lobe epilepsy.

Two competing hypotheses (i.e., disruption of semantic networks vs. search inefficiency) concerning the mechanisms underlying impaired semantic verbal fluency in temporal lobe epilepsy (TLE) were tested within a single paradigm. Reports that semantic verbal fluency is more impaired in left than right TLE groups were confirmed by the findings that the left TLE group produced fewer words on a supermarket fluency task than did the normal control (NC) group, and that the performance of the right TLE group was intermediate to that of the left TLE and NC groups. Because both TLE groups generated fewer words per category of supermarket items sampled, and produced a higher ratio of category labels relative to category exemplars than did the NC group, it can be surmised that TLE disrupts semantic memory networks. The findings did not support the competing hypothesis that reduced semantic verbal fluency in TLE is a manifestation of inefficient search/retrieval strategies, possibly associated with distal frontal lobe pathophysiology. Specifically, the TLE and NC groups did not differ significantly in their mean number of perseverations, intrusions, or search efficiency (operationalized as the ratio of the number of shifts between categories to the number of categories sampled).

Adult↗

PubMed2004

Productive and perceptive language reorganization in temporal lobe epilepsy.

The aim of this work was to determine whether productive and perceptive language functions are differentially affected in homogeneous groups of epilepsy patients with right and left temporal lobe epilepsy (TLE). Eighteen patients with left TLE, 18 with right TLE, and 17 healthy volunteers were studied using fMRI during performance of three tasks assessing the productive and perceptive aspects of language (covert semantic verbal fluency, covert sentence repetition, and story listening). Hemispheric dominance for language was calculated in the frontal and temporal regions using laterality indices (LI). Atypical lateralization was defined as a right-sided LI (LI<-0.20) in the frontal lobes during the verbal fluency task or in the temporal lobes during the story listening task. Control subjects and right TLE patients demonstrated a strong left lateralization for language in the frontal lobes during the fluency task, whereas activation was less lateralized to the left hemisphere in left TLE patients, although the difference did not reach significance. In the story listening and the repetition tasks, activation was significantly more right sided in the temporal lobes of patients with left TLE. Atypical language representation was found in 19% of TLE patients (five left and two right TLE). The shift toward the right hemisphere was significantly larger in the temporal than the frontal lobes in patients with atypical language lateralization compared to TLE patients with a typical language lateralization. Neuropsychological performances of patients with atypical language patterns were better than those of patients with typical patterns, suggesting that this reorganization may represent a compensatory mechanism.

Adolescent↗

PubMed2002

Brain diffusion during hyperventilation: diffusion-weighted MR-monitoring in patients with temporal lobe epilepsy and in healthy volunteers.

Hyperventilation (HV) can be used to provoke epileptiform activity and occasionally seizures in generalised and in focal epilepsies. Based on the hypothesis that HV might alter brain diffusion in the epileptogenic areas of patients with temporal lobe epilepsy (TLE), we examined these alterations using quantitative diffusion MR imaging (DI) in four patients with TLE and unilateral hippocampal sclerosis (TLE-HS) and six patients with TLE without hippocampal sclerosis (TLE-pure), and in 10 healthy volunteers. Brain diffusion was measured at baseline and immediately after 4 min of HV. In all patients with TLE HV was repeated two times, 4 min each, followed by subsequent DI. The apparent diffusion coefficient (ADC) was quantified in predefined regions of interest. In controls, the ADC did not differ between baseline and HV and between right and left side. Compared to controls TLE-HS patients showed significantly higher ADC at baseline in the hippocampus of the ictogenic side (111+/-13 vs. 87.5+/-4.26 x 10(-5) mm(2)/s, P=0.029). During HV ADC decreased significantly in the ictogenic hippocampus compared to controls (-17.3+/-7.1 vs. -3.34+/-8.7, P=0.004). In TLE-pure patients ADC of the ictogenic hippocampus was higher than in normals (99.3+/-14.2 vs. 87.5+/-4.26 x 10(-5) mm(2)/s, P=0.031) but there was no significant decrease during HV. Serial HV did not further enhance this decrease. No significant HV-induced changes were seen in other brain areas. In conclusion, our results show that HV can induce dynamic changes of brain diffusion in patients with sclerotic hippocampi but not in non-sclerotic hippocampi. These findings may be utilized for lateralisation of the epileptogenic hippocampus during presurgical evaluation of TLE.

Adult↗

PubMed2003

Increased frequency of interleukin-1beta-511T allele in patients with temporal lobe epilepsy, hippocampal sclerosis, and prolonged febrile convulsion.

PURPOSE: To confirm the high frequency of interleukin (IL)-1beta-511T allele occurrence in patients with temporal lobe epilepsy (TLE) and hippocampal sclerosis (HS), with special attention given to the impact of prolonged febrile convulsions (PFCs) on IL-1beta genotype distribution. METHODS: Patients with evidence of unilateral HS on magnetic resonance (MR) images were chosen as study subjects (TLE+HS; n = 66). Other patients with essentially normal MRI findings or only foreign tissue (TLE without HS; TLE-HS; n = 64), and those with symptomatic localization-related epilepsy but without TLE (SLE; n = 89) were selected as disease controls. A single base pair polymorphism at position 2511 in the promoter region of the IL-1beta gene was analyzed. RESULTS: The distribution of IL-1beta-511 genotypes as well as allele frequency was significantly different between TLE+HS patients and controls. In contrast, no difference was found between TLE-HS patients and controls or between SLE patients and controls. Further, in the group of patients with TLE+HS, the frequency of the IL-1beta-511T allele tended to increase as a function of febrile convulsions [0.531 without either PFC or simple febrile convulsion (SFC); 0.633 with SFC; 0.686 with PFC]. Although no statistically significant difference was noted between patients without PFC and the controls, a chi2 analysis of allele distribution revealed a significant difference between those with PFC and the controls. CONCLUSIONS: PFC proved to be a potent determinant of IL-1beta-511T allele frequency; thus a discrepancy of PFC incidence should be considered an explanation of recent conflicting results regarding the association between the gene polymorphisms of IL-1beta-511 and TLE+HS.

Adult↗

PubMed2002

Clinical and genetic heterogeneity in familial temporal lobe epilepsy.

PURPOSE: Familial forms of temporal lobe epilepsy have been described recently. A locus on ch 10q has been linked to partial epilepsy with auditory symptoms. We investigated the proportion of families segregating temporal lobe epilepsy (TLE) linked to ch 10q and sought to establish genotype-phenotype correlations. METHODS: We studied 15 unrelated families segregating TLE. A total of 153 individuals, including 79 patients, were analyzed in this study. Family members were genotyped for four polymorphic dinucleotide repeat markers: D10S185, D10S574, D10S577, and D10S192, which flank the 15-cM candidate interval on ch 10q. Two-point lod scores were calculated for each family separately. RESULTS: Fourteen of our families had ictal semiology of mesial temporal onset of seizures and magnetic resonance imaging (MRI) abnormalities in the mesial structures; only one family, with seven affected individuals, reported auditory symptoms and had normal MRIs. Pedigree analysis showed an autosomal dominant transmission with 0.75 penetrance. Only two families had informative lod scores. A large family, with 22 affected individuals segregating mesial TLE, had negative lod scores for all four markers genotyped. The lod scores were significantly negative (less than -2.00) up to 0.05 for D10S185, 0.10 for D10S574, 0.25 for D10S577, and 0.15 for D10S192. The single family with auditory symptoms had positive lod scores for all markers genotyped, with a Z max of 1.52 at 0.0 for D10S574. CONCLUSIONS: We identified two different clinical groups of families segregating TLE. Most families identified in this study had mesial TLE. Only one single family segregating lateral TLE was found. We significantly excluded linkage between familial mesial TLE and the locus on ch 10q. In addition, we showed evidence for linkage between one family with lateral TLE and markers on ch 10q. This is strong evidence for clinical and genetic heterogeneity among familial forms of TLE.

Chromosome Segregation↗

PubMed1983

Interaction between trypsin-like enzyme from Streptomyces erythraeus and Japanese quail ovomucoid.

We examined the interaction between a trypsin-like enzyme from Streptomyces erythraeus (TLE-Se) and Japanese quail ovomucoid (QO) as a model of the interaction between a serine protease and a Kazal-type inhibitor. Both the second domain (Domain II) and the third domain (Domain III) of QO inhibited TLE-Se. But there was a great difference in the apparent association rate constant (kappa a) between Domain II and Domain III at pH 8.0 (the optimum pH of the enzymatic activity), and Domain III associated with TLE-Se about 10(5) times faster than Domain II. The pH dependency of kappa a for Domain III and TLE-Se was maximum around pH 8, but in the case of Domain II and TLE-Se the maximum was around pH 4. This suggested that some acidic amino acid residues had some influence upon the association of Domain II with TLE-Se. When we examined the interaction between TLE-Se and amidated Domain II in which most of the aspartic and glutamic acids were amidated for conversion into asparagine and glutamine with NH4Cl and carbodiimide, the pH dependence of kappa a greatly differed from that obtained for TLE-Se and native Domain II, and an almost constant kappa a value (10(3)-10(5) times higher than that of native Domain II) was exhibited between pH 5 and 8. At the same time, the dissociation constant at pH 8.0 became about 10(-2) times smaller, and thus the affinity between TLE-Se and amidated Domain II became stronger. These observations suggest that the electrostatic effect derived from the repulsion between the minus charges which are located at contact area sites of both molecules control the reactivity in the interaction between protease and a protein protease inhibitor.

Amides↗