Nagako Murakami

Prevalence of childhood epilepsy and distribution of epileptic syndromes: a population-based survey in Okayama, Japan.

Summary:  Methods: Information on patients younger than 13 years with active epilepsy was collected from medical records. Patients diagnosed with epilepsy according to clinical and EEG findings were put on the list even if those patients had had a single seizure or seizures occurring during febrile episodes.

Predictors and underlying causes of medically intractable localization-related epilepsy in childhood.

The goal of this study is to clarify the prognostic factors in childhood localization-related epilepsy in a tertiary medical center. Children (n = 113) with symptomatic and cryptogenic localization-related epilepsy were divided into groups of intractable patients (average seizure frequency: one or more per month during the 6 months before the last follow-up; n = 40) and well-controlled patients (no seizures for at least 1 year before the last follow-up; n = 73). Clinical and electroencephalogram (EEG) factors were examined to elucidate prognostic factors. The subtypes of epilepsies and causes were also investigated. Univariate analyses indicated that the following factors were correlated with seizure outcome: (1) seizure type at the first visit; (2) seizure frequency; (3) underlying cause; (4) age at onset of epilepsy; (5) status epilepticus occurring as the first seizure and before the first visit; and (6) diffuse epileptic discharges on first visit interictal EEGs. Multivariate analyses revealed that seizure type at the first visit, seizure frequency, status epilepticus before the first visit, and underlying causes were significant independent predictive factors. The rate of intractable patients was highest in multilobar epilepsy, followed by frontal-lobe epilepsy. Regarding etiologies, the intractable group contained nine patients with encephalitis of unknown origin and three each with localized cortical malformation and mesial temporal sclerosis.

Mesial Temporal Lobe Epilepsy in Childhood

Summary: To clarify the clinical picture of mesial temporal lobe epilepsy (MTLE) in childhood, we carried out a clinical, electroencephalographic, and neuroradiologic study of 19 patients. MTLE was noted in 19 (0.82%) of 2,319 epileptic patients with childhood onset. Three types of initial seizure were recognized: febrile convulsion, afebrile generalized convulsion, and complex partial seizure (CPS). As presumed causes, various prolonged convulsions (persisting for >30 min) were found in 12 (63.2%) cases. Regardless of the presence of preceding convulsions (febrile or afebrile), the clinical course was not uniform, with CPS in the early period temporarily controlled in some cases and intractable from the early period in others. Unilateral hippocampal abnormalities were confirmed on magnetic resonance imaging (MRI) before the age of 5 years in two cases, suggesting that mesial temporal sclerosis (MTS) is formed within a relatively short period in some cases. Seizures were controlled for >6 months in only two (10.5%) cases and persisted in 17. In four (21.1%) cases, surgical treatment was considered to be available.

Early Infantile Epileptic Syndromes with Suppression-Bursts: Early Myoclonic Encephalopathy vs. Ohtahara Syndrome

The subjects comprised 21 cases, 15 with 0s and 6 with EME. The diagnostic criteria of both conditions were based on the international classification of epilepsy, epileptic syndromes, and related disorders3 (ILAE, 1989). The age at onset ranged from one to 86 days after birth in OS, and from 5 to 93 days in EME. Of these, the onset occurred within the first month of life in 11 of the 0s cases (73.3%) and two of the EME cases (33.3%). The age of the last follow-up ranged from 6 months to 17 years 8 months in 0s and from 2 years 4 months to 5 years 11 months in EME. In OS, seven cases were deceased, including four whose early death was within 2 years of birth. In EME, one died at 4 years 8 months of age. The etiology, seizure pattern,

Developmental Aspects of Epilepsy with Special Reference to Age‐Dependent Epileptic Encephalopathy

Abstract: The specificity of childhood epilepsy was characterized by investigating the evolutional changes with age and prognoses of age‐dependent epileptic encephalopathy from the developmental aspect through a long‐term follow‐up.

Nonconvulsive Status Epilepticus with Continuous Diffuse Spike‐and‐Wave Discharges during Sleep in Childhood

On three epileptic conditions with common characteristics of almost continuous diffuse spike-and-wave discharges during sleep in EEG, clinical and electroencephalographic studies were undertaken to elucidate their pathophysiologies and interrelationships; namely on five cases of epilepsy with electrical status epilepticus during slow sleep (ESES), seven cases of a peculiar type of nonconvulsive status epilepticus in childhood (PNSE) and three cases of atypical benign partial epilepsy (ABPE). The dominant seizure types were absences and/or GTC in ESES, whereas they were focal motor seizures in PNSE and ABPE with more focalized epileptic discharges on EEGs than those in ESES. All the three conditions showed both features of generalized and partial epilepsies, although the former features were more prominent in ESES and the latter in PNSE and ABPE.

Initiation of Treatment and Selection of Antiepileptic Drugs in Childhood Epilepsy

Summary:  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).

Phenotypic Variability in Childhood of Skeletal Muscle Sodium Channelopathies

BACKGROUND Mutations of the SCN4A gene cause several skeletal muscle channelopathies and overlapping forms of these disorders. However, the variability of the clinical presentation in childhood is confusing and not fully understood among pediatric neurologists. PATIENTS We found three different mutations (p.V445M, p.I693L, and a novel mutation, p.V1149L) in SCN4A but not in the CLCN1 gene. The patient with p.V445M showed the clinical phenotype of sodium channel myotonia, but her clear symptoms did not appear until 11 years of age. Her younger sister and mother, who have the same mutation, displayed marked intrafamilial phenotypic heterogeneity from mild to severe painful myotonia with persistent weakness. The patient with p.I693L exhibited various symptoms that evolved with age, including apneic episodes, tonic muscular contractions during sleep, fluctuating severe episodic myotonia, and finally episodic paralyses. The patient with the novel p.V1149L mutation exhibited episodic paralyses starting at 3 years of age, and myotonic discharges were detected at 11 years of age for the first time. CONCLUSION The present cohort reveals the complexity, variability, and overlapping nature of the clinical features of skeletal muscle sodium channelopathies. These are basically treatable disorders, so it is essential to consider genetic testing before the full development of a patients condition.

Refractory Epilepsy in Infancy and Childhood–A Prospective Follow‐Up Study

Although therapy for childhood epilepsies has been dramatically improved in the past few years? not a negligible number of cases is still resistant to the rap^.^ To clarify the reality of refractory epilepsies in childhood, a comparative study was made between refractory cases and control cases with a favorable seizure prognosis. Finding a therapeutic clue to refractory epilepsies was expected in the analysis of factors responsible for intractability.

A population-based neuroepidemiological survey of West syndrome in Okayama Prefecture, Japan

It is important for the fields of child neurology and child public health to clarify the prevalence and incidence rates of West syndrome because this syndrome is a major cause of developmental disorders.However, there have been few reports in Japan on the prevalence rate of West syndrome in the general population. We carried out a population-based survey in Okayama Prefecture, in western Japan in 1994. The population under 2 years of age in Okayama Prefecture in 1994 was 37,085. Six cases of West syndrome were identified. The prevalence rate was 0.16 per 1000.