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Biomedical subjects

Minako Ito

Publications and source records attributed to Minako Ito.

9 recordsLinked to original sources

A population-based survey of childhood epilepsy in Okayama Prefecture, Japan: reclassification by a newly proposed diagnostic scheme of epilepsies in 2001.

The purpose of this study is to clarify the usefulness and problems of the newly proposed classification of epilepsies (International League Against Epilepsy: ILAE, 2001) in the epidemiological studies of epilepsy. We previously conducted an epidemiological study in Okayama Prefecture, Japan, in 1999, using the ILAE 1989 classification. Among 250,997 children under 13 years of age, 2220 epileptic patients were ascertained. In this study, we reclassified them according to the ILAE 2001 classification, focusing on axes 2 (seizure types) and 3 (syndromes). We were able to classify 1803 (95.0%) seizure types out of 1899 with detailed clinical information. In focal seizures, the most common were secondarily generalized seizures (88.6%), which generally do not represent a unique anatomic substrate. In generalized seizures, topic-clonic seizures (40.7%) and spasms (21.0%) were the most common. We identified only 269 (12.1%) patients with specific epilepsy syndromes out of the 2220. We classified 1761 patients without specific syndromic diagnoses only by axis 2, but the new concept of epileptic seizure types, representing a unique pathophysiologic mechanism and anatomic substrate, was not very meaningful in most cases, even in those with focal seizures.

Child↗

Diagnostic issues and treatment of cryptogenic or symptomatic generalized epilepsies.

To clarify the diagnostic issues and treatment of patients with cryptogenic or symptomatic generalized epilepsies, not including West syndrome (WS), we investigated electroclinical change during the clinical course, and treatment effects in these patients. The selection criteria were minor generalized seizures as their main seizure type and diffuse epileptic discharges as their main EEG findings. Regarding EEG, we included EEGs that predominantly displayed multifocal spike-waves because of the inclusion of severe epilepsy with multiple independent spike foci (SE-MISF). We divided the subjects into two groups according to their main seizure types: Group A (54 patients) with brief tonic seizures and Group B (24 patients) with myoclonic seizures and/or atypical absences. The main epileptic syndromes were considered to be Lennox-Gastaut syndrome and SE-MISF in Group A, and epilepsy with myoclonic-astatic seizures in Group B. A history of WS was often seen in Group A, but it was exceptional in Group B. During the clinical course, seizure types did not basically change in Group A. EEG patterns were changeable in both groups. Although there was some overlap in electroclinical manifestations among epileptic syndromes, a transition between the two groups was not seen. High-dose valproate and ethosuximide were the most effective in Groups A and B, respectively. Long-term prognosis was significantly more favorable in Group B than in Group A.

Adolescent↗

A developmental study of scores of the Boston Qualitative Scoring System.

To elucidate developmental changes of the Summary Scores of the Boston Qualitative Scoring System (BQSS) for the Rey-Osterrieth Complex Figure (ROCF). One hundred healthy children aged 6-16 (average 9.7 +/- 2.4; 60 boys, 40 girls). The ROCF was administered and graded based on the BQSS. The subjects were classified in four age-groups: 6- and 7-year-olds; 8- and 9-year-olds; 10- and 11-year-olds; and 12- and 16-year-olds. The differences in Summary Scores were examined among age-groups. All BQSS Summary Scores except Delayed Retention showed clear developmental changes. The Copy Presence Accuracy, the Immediate Presence Accuracy, the Delayed Presence Accuracy, and the Immediate Retention showed continuous development throughout childhood, though some differences were noted in the age ranges during which each score showed the most rapid development. The Organization score showed a somewhat peculiar pattern, with rapid development during the age ranges of 8-9 and 10-11 and with no distinctive development before and after these ranges. Five of the six BQSS Summary Scores showed clear developmental changes with a different developmental pattern in each score. Especially, the Organization score was unique and was supposed to reflect a different underlying process than the other Summary Scores, which might relate to the local and global processing style. BQSS is a promising tool for the evaluation of higher brain functions in childhood.

Adolescent↗

EEG and seizure exacerbation induced by carbamazepine in Panayiotopoulos syndrome.

We report on a 4-year 8-month-old boy with Panayiotopoulos syndrome who showed atypical evolution with newly developed absence seizures and EEG exacerbation induced by carbamazepine. Soon after the introduction of carbamazepine, EEGs began to worsen, and finally absence seizures and myoclonic seizures appeared. Immediately after we discontinued carbamazepine, the seizures disappeared and the EEG improved. Carbamazepine may induce unusual electroclinical features, electrophysiologically explained by bilateral synchrony. This case provides more evidence of the close links between Panayiotopoulos syndrome and benign childhood epilepsy with centrotemporal spikes.

Anticonvulsants↗

Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures.

Absence seizures are classified into typical and atypical absences according to clinical and EEG characteristics. Although missense mutations in the GABA(A) receptor gamma2 subunits (GABRG2) gene have recently been detected in two families with typical absence seizures, no study has been carried out to clarify the relationship between atypical absence and GABA(A) receptors. We performed mutation analysis of all the coding exons of GABA(A) receptor alpha1, beta2 and gamma2 subunit (GABRA1, GABRB2 and GABRG2) genes by direct sequencing to clarify whether there was common molecular biological mechanism underlying both typical and atypical absences. We recruited 52 unrelated Japanese patients, thirty-eight with typical absences and 14 with atypical absences. They consisted of 38 with childhood absence epilepsy, three with Lennox-Gastaut syndrome, two with epilepsy with myoclonic-astatic seizures and nine with epilepsy with continuous spike-waves during slow wave sleep. All of the subjects were idiopathic or cryptogenic cases without any organic brain lesions or underlying diseases. We detected five polymorphisms (T156C in GABRA1, C1194T in GABRB2, and C315T, T588C and C1230T in GABRG2), and they are silent mutations. In conclusion, mutations in GABRA1, GABRB2 and GABRG2 do not seem to be a major genetic cause of epilepsy with typical and atypical absences in Japanese subjects.

DNA Mutational Analysis↗

High-throughput in planta expression screening identifies a class II ethylene-responsive element binding factor-like protein that regulates plant cell death and non-host resistance.

We performed high-throughput screening using the potato virus X (PVX) system to overexpress Nicotiana benthamiana genes in planta and identify positive regulators of cell death. This screening identified NbCD1, a novel class II ethylene-responsive element binding factor (ERF), as a potent inducer of the hypersensitive response (HR)-like cell death. NbCD1 expression was induced by treatments with INF1 elicitor and a non-host pathogen Pseudomonas cichorii. NbCD1 exhibited transcriptional repressor activity through its EAR motif, and this motif was necessary for NbCD1 to cause cell death. We identified 58 genes that displayed altered transcription following NbCD1 overexpression. NbCD1 overexpression downregulated the expression of HSR203, a negative regulator of hypersensitive death. Conditional expression of NbCD1 in Arabidopsis also caused cell death, indicating that NbCD1 downstream cascades are conserved in dicot plants. To further confirm the role of NbCD1 in defense, we used virus-induced gene silencing to demonstrate that NbCD1 is required for non-host resistance of N. benthamiana to the bacterial pathogen P. cichorii. Our data point to a model of transcriptional regulatory cascades. NbCD1 positively regulates cell death and contributes to non-host resistance, possibly by downregulating the expression of other defense response genes.

Amino Acid Sequence↗

Clinical and electroencephalographic characteristics of children with febrile seizures plus.

OBJECTIVES: Febrile seizures plus (FS+) are attracting attention for their corresponding genetic abnormalities, and are defined as febrile seizures (FS) continuing beyond 6 years of age (late FS) or those associated with afebrile seizures. We tried to elucidate their clinical and EEG characteristics as compared with those of children having only FS. SUBJECTS AND METHODS: We reviewed clinical records in a pediatric neurology clinic to identify 31 patients with FS+ (group FS+) and 51 with only FS (group FS). Their family history of seizures, clinical features and EEG findings were compared. RESULTS: A family history of seizures was noted in 14 patients (45.2%) of group FS+ and in 24 (47.1%) of group FS. In group FS+, 19 patients had late FS, 11 had afebrile seizures, and the remaining one had both types of seizures. Two patients had seizures induced by TV/video-game as well, and another suffered from absences. Epileptic EEG abnormalities, which included diffuse spike-waves and focal spikes, were noted in 13 patients (41.9%) of group FS+ and 12 (23.5%) of group FS. CONCLUSIONS: The clinical and EEG characteristics of the children having FS+ were diverse, without significant differences from those with FS except for the seizures types.

Adolescent↗

EEG in childhood absence epilepsy.

UNLABELLED: We performed a longitudinal clinico-electroencephalographic study of 23 children who were diagnosed as having absence epilepsy on their initial visits to our facility and we analysed those factors which lead to an unfavourable prognosis. SUBJECTS AND METHODS: We divided the 23 patients into three groups according to their clinical courses: Group A: eight patients who responded well to the therapy and became seizure free without relapse of epileptic discharges on EEGs; Group B: thirteen patients who suffered from relapse of epileptic discharges on EEGs despite clinical seizure cessation; Group C: two patients who continued to suffer from seizures. RESULTS: (1) Fifty-six percent of all patients had focal epileptic discharges, including a surprising 63% of patients in Group A. (2) "Lead in" in the ictal EEGs and automatisms during seizures were most commonly observed in patients in Group B, although there were no significant differences between the three groups. (3) The epilepsy of one patient in Group C evolved into complex partial seizures or absence status during her clinical course. She seemed to suffer from so-called "frontal absence", despite the fact that her initial EEG did not show any focal abnormalities. (4) Patients in Group B were treated with lower AED dosages than those in Group A. In addition, one patient in Group C was treated irregularly. CONCLUSION: We conclude that it is not uncommon for patients with absence epilepsy to show focal abnormalities on EEGs and clinical ictal automatisms. Thus, the existence of clinical ictal automatisms and focal signs in electroencephalographic features are not sufficient indicators of the final outcome. Furthermore, it appears that regular and adequate drug therapy is important for a favourable prognosis.

Anticonvulsants↗

Initiation of treatment and selection of antiepileptic drugs in childhood epilepsy.

PURPOSE: A retrospective study was carried out on 53 cases with childhood epilepsy to evaluate the validity of the initial selection of antiepileptic drug (AED). METHODS: We investigated the AEDs selected at the beginning of the treatment from the medical records of 53 untreated cases. A follow-up study was undertaken to evaluate the effects of the AEDs. In the second study, we investigated the AEDs of 10 cases with atypical benign partial epilepsy (ABPE), to clarify whether the initial AEDs selected for rolandic epilepsy were related to the appearance of ABPE. RESULTS: The AEDs used at the initial stage consisted of carbamazepine (CBZ), valproic acid (VPA), phenobarbital (PB), and vitamin B6. The main AEDs were CBZ and VPA for localization-related epilepsy, and VPA for generalized epilepsy. The initial selection of AEDs in 41 (85.4%) of 48 cases treated with AEDs were considered to be correct from the results of follow-up. We could not specify any AEDs that related to the appearance of ABPE. CONCLUSIONS: The selection of AED in this series was considered to be most appropriate. We proposed a criterion to determine whether to begin the AED treatment immediately at the initial seizure.

Adolescent↗