Long-term course of Dravet syndrome: a study from an epilepsy center in Japan.

Objective: This study attempted to clarify the long-term course of Dravet syndrome (DS).

Methods: Sixty-four patients diagnosed with DS (44 with typical DS, and 20 with atypical DS) were studied. The long-term outcomes of clinical seizures, electroencephalographic findings, neuropsychological findings, and social situation were analyzed.

Immunomodulatory therapy versus surgery for Rasmussen syndrome in early childhood.

We examined seizure, cognitive, and motor outcomes in patients with Rasmussen syndrome or Rasmussen encephalitis (RS), after recent initiation of immunomodulatory therapies. Among 53 patients with a diagnosis of RS referred from all over Japan, 49 patients (male 22, female 27) with symptoms and findings characteristic of RS were evaluated. Regular intravenous immunoglobulin (IVIg) therapy was administered at a dose of 100mg/kg/day, etc.

Temporal changes in brain MRI findings in Rasmussen syndrome.

Introduction: MRI data is essential for early diagnosis and evaluation of surgical indication in patients with Rasmussen syndrome (RS). In the present study, we examined the status and evolutionary changes in MRI lesions to identify the MRI characteristics of RS.

Methods: MRI of 15 RS patients was examined regarding frequency and distribution of atrophic lesions on T1-weighted images and high intensity lesions on FLAIR or T2-weighted images.

Lamotrigine is favourable for startle-induced seizures.

Falling due to startle-induced seizures (SISs) often leads to injury. The triggers of SIS are mostly unexpected auditory stimuli, which are too common to avoid in daily life. As SISs are often refractory to conventional medications, effective therapeutic options have to be established.

[Remarkable effect of a modified ketogenic diet in a boy with focal seizures followed by epileptic spasms in a cluster].

A modified ketogenic diet was demonstrated to be remarkably effective in a child with intractable symptomatic focal epilepsy with combined seizures of focal seizures and epileptic spasms (ES) in a cluster (ESC). ES started at 8 months of age and disappeared with ACTH therapy. At the age of 13 months, the child began to have intractable focal seizures that, later, were followed by ESC 10 times a day.

Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome.

Purpose: A questionnaire survey was conducted in Japan to investigate the causes and prevalence of death related to Dravet syndrome.

Methods: A questionnaire was delivered to 246 hospitals at which physicians were treating childhood epilepsy to gain information about the total number of patients with Dravet syndrome and their prevalence of early death.

Key Findings: Responses to the survey were collected from 91 hospitals, and a total of 63 of 623 patients with Dravet syndrome died.

Mortality in Dravet syndrome: search for risk factors in Japanese patients.

A questionnaire survey was conducted in Japan to investigate the causes and prevalence of death related to Dravet syndrome. The questionnaire was delivered to 246 hospitals at which physicians were treating childhood epilepsy to gain information about the total number of patients with Dravet syndrome and the prevalence of early death due to the disorder. Responses to the survey were collected from 91 hospitals, and a total of 63 of 623 patients with Dravet syndrome had died.

[Symptoms and clinical course of epilepsy with myoclonic absences].

There is no comprehensive study so far in Japan on epilepsy with myoclonic absences (EMA), characterized by myoclonic absences (MA) as a specific seizure type. We retrospectively studied 9 patients (4 males and 5 females) with EMA confirmed by ictal video EEG and polygraph (EEG+EMG) recordings. The age at MA onset ranged from 18 to 92 months and the age at the last follow-up ranged from 3 to 39 years.

KCC2 was downregulated in small neurons localized in epileptogenic human focal cortical dysplasia.

Focal cortical dysplasia (FCD), which is characterized histologically by disorganized cortical lamination and large abnormal cells, is one of the major causes of intractable epilepsies. γ-aminobutyric acid (GABA)(A) receptor-mediated synchronous depolarizing potentials have been observed in FCD tissue. Since alterations in Cl(-) homeostasis might underlie these depolarizing actions of GABA, cation-Cl(-) cotransporters could play critical roles in the generation of these abnormal actions.

[Effectiveness of topiramate in eleven patients with Dravet syndrome].

Dravet syndrome is a rare, but highly refractory epilepsy syndrome. As conventional drugs are not effective, introduction of new effective drugs in clinical use will benefit patients with this disease. We assessed the effectiveness of topiramate (TPM) as adjunctive therapy in 11 patients with Dravet syndrome.

Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.

Mutations involving the voltage-gated sodium channel alpha(I) gene SCN1A are major genetic causes of childhood epileptic disorders, as typified by Dravet syndrome. Here we investigated the upstream regions of the SCN1A 5' noncoding exons and found two major regions with promoter activity. These two major promoters were simultaneously active in various brain regions and in most neurons.

HLA class I markers in Japanese patients with carbamazepine-induced cutaneous adverse reactions.

Carbamazepine (CBZ) is frequently used for treating epilepsy, but this drug causes cutaneous adverse drug reactions (cADRs) that may range from mild to severe. It is reported recently that the human leukocyte antigen HLA-B*1502 is associated with Stevens-Johnson syndrome (SJS) induced by CBZ in Han Chinese. We examined HLA class I in 15 Japanese patients who fulfilled the diagnostic criteria for CBZ-induced cADRs (mild in 10 and severe = SJS in 5).

Neural connection between bilateral basal temporal regions: cortico-cortical evoked potential analysis in patients with temporal lobe epilepsy.

Objective: In patients with temporal lobe epilepsy, invasive electroencephalographic study has shown that epileptic activities arising from the unilateral temporal lobe often propagate to the contralateral temporal lobe. Which commissural pathways are responsible for this spreading remains controversial. Some previous studies, however, have suggested that interhemispheric connections between bilateral basal temporal regions (BTR) might have a significant role in propagation of epileptic activities.

[Acute limbic encephalitis and NMDA type-glutamate receptor].

We compared clinical characteristics and autoantibodies against GluRepsilon2 between 95 patients with nonparaneoplastic non-herpetic acute limbic encephalitis (NPNHALE) and 19 patients with non-herpetic acute encephalitis accompanying ovarian teratoma (NHAE-OT). Onset age (mean +/- SD) was 27.7 +/- 18.

A substantial number of Rasmussen syndrome patients have increased IgG, CD4+ T cells, TNFalpha, and Granzyme B in CSF.

Purpose: We studied the immunologic molecules in cerebrospinal fluid (CSF) and discussed their evolutional changes in pediatric patients with Rasmussen syndrome (RS).

Methods: CSF samples collected from 27 patients with RS (average onset age, 7.5 +/- 5.

[Autoantibodies against glutamate receptors in patients with encephalitis].

We examined autoantibodies against GluRepsilon2 in patients with acute encephalitis, who were categorized into localized encephalitis and widespread encephalitis. Patients with localized encephalitis are defined as patients showing psychic symptoms (illusions, anxiety and distraction etc.), solitary seizures and/or very mild impairment of consciousness in the initial stage.

Bilateral symmetric tonic posturing suggesting propagation to the supplementary motor area in a patient with precuneate cortical dysplasia.

We report a patient manifesting seizures with bilateral symmetric tonic posturing, which were markedly reduced after resection of the left precuneus. A 16-year-old man had sudden onset, complex partial seizures with bilateral symmetric tonic posturing since the age of eight years. Magnetic resonance fluid-attenuated inversion-recovery imaging revealed a hyperintense lesion in left precuneus.

Usefulness of 123I-iomazenil single-photon emission computed tomography in discriminating between mesial and lateral temporal lobe epilepsy in patients in whom magnetic resonance imaging demonstrates normal findings.

Object: To provide greater accuracy in determining the epileptogenic zone during preoperative evaluation, the authors retrospectively examined 123I-iomazenil single-photon emission computed tomography (IMZ SPECT) studies obtained in patients with temporal lobe epilepsy (TLE) in whom there was no evidence of an abnormality on magnetic resonance (MR) images.

Methods: Twelve patients, seven with mesial TLE (MTLE) and five with lateral TLE (LTLE), satisfied the criteria for inclusion in the study. The IMZ SPECT findings in these patients were reviewed retrospectively, and a comparison was made between findings in patients with MTLE and those in patients with LTLE.

Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

We investigated the roles of mutations in voltage-gated sodium channel alpha 1 subunit gene (SCN1A) in epilepsies and psychiatric disorders. The SCN1A gene was screened for mutations in three unrelated Japanese families with generalized epilepsy with febrile seizure plus (GEFS+), febrile seizure with myoclonic seizures, or intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC). In the family with GEFS+, one individual was affected with panic disorder and seizures, and another individual was diagnosed with Asperger syndrome and seizures.

Postictal mania versus postictal psychosis: differences in clinical features, epileptogenic zone, and brain functional changes during postictal period.

Purpose: To clarify the differences between postictal mania (PIM) and postictal psychosis (PIP).

Methods: Five patients with PIM were compared to 17 patients with PIP, with respect to clinical, epileptological, electrophysiological, and neuroimaging features. PIM was distinguished from PIP by the symptoms observed in the postictal period based on the ICD-10 criteria.

Vaccination and infection as causative factors in Japanese patients with Rasmussen syndrome: molecular mimicry and HLA class I.

Rasmussen syndrome is an intractable epilepsy with a putative causal relation with cellular and humoral autoimmunity. Almost half of the patients have some preceding causative factors, with infections found in 38.2%, vaccinations in 5.

Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies.

Severe myoclonic epilepsy in infancy (SMEI) manifests very frequent generalized tonic-clonic seizures (GTC), accompanied by myoclonic seizures, absences and partial seizures [Dravet, C., 1978. Les épilepsie grave de l'enfant.

Autoantibodies and cell-mediated autoimmunity to NMDA-type GluRepsilon2 in patients with Rasmussen's encephalitis and chronic progressive epilepsia partialis continua.

Purpose: To evaluate antibody-mediated and cytotoxic T cell-mediated pathogenicity that has been implicated as the autoimmune pathophysiological mechanism in Rasmussen's encephalitis.

Methods: We examined autoantibodies against the N-methyl-d-aspartate glutamate receptor (NMDA-type GluR) epsilon2 subunit and its epitopes in serum and CSF samples from 20 patients [five histologically proven (definitive) Rasmussen's encephalitis with epilepsia partialis continua (EPC), four definitive Rasmussen's encephalitis without EPC, and 11 clinical Rasmussen's encephalitis with EPC]. We examined 3H-thymidine uptake into lymphocytes after stimulation by GluRs.

Etiologic factors and clinical features of symptomatic epilepsy: focus on pediatric cases.

We discuss the presumptive etiologic factors of symptomatic epilepsy from the clinical standpoint, based on our experience of 383 inpatients with epilepsy, with a focus on children. The main (top three) presumptive etiologic factors in partial epilepsy are intracranial infection, cerebral malformation and perinatal brain damage. In generalized epilepsy, the main presumptive etiologic factors are perinatal brain damage, intracranial infection, and cerebral malformation.