Mesial temporal lobe epilepsy with no specific histological abnormality: a distinct surgically remediable syndrome.

Purpose: The purposes of the study were twofold: to clarify the clinical features and surgical outcome of mesial temporal lobe epilepsy (MTLE) with no specific histological abnormality and to determine the optimal surgical strategy.

Methods: Twelve patients who met the following criteria were included: (1) normal preoperative MRI; (2) intracranial EEG findings consistent with mesial temporal onset of seizures; (3) selective amygdalohippocampectomy (AHE) was performed, and the patient was followed for more than 2years postoperatively; and (4) hippocampal histopathology was nonspecific. Clinical characteristics, intracranial EEG findings, and postoperative seizure outcome were examined.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

Objective: We aimed to investigate the possible association between SCN2A mutations and early-onset epileptic encephalopathies (EOEEs).

Methods: We recruited a total of 328 patients with EOEE, including 67 patients with Ohtahara syndrome (OS) and 150 with West syndrome. SCN2A mutations were examined using high resolution melt analysis or whole exome sequencing.

Influence of CYP2C19 polymorphism and concomitant antiepileptic drugs on serum clobazam and N-desmethyl clobazam concentrations in patients with epilepsy.

Objective: The aims of this study were to identify the factors influencing the metabolism of clobazam (CLB) and its active metabolite [N-desmethyl clobazam (NCLB)] and to evaluate the NCLB concentration as an indicator for CYP2C19 polymorphism in epileptic patients.

Methods: A total of 302 serum samples from 238 Japanese patients were evaluated. The ratios of the serum CLB and NCLB concentrations to the CLB dose (CD ratios) were calculated and compared with CYP2C19 phenotypes.

[Antibodies to the glutamate receptor].

Glutamate receptors (GluRs) are classified into metabotropic GluRs and ionotropic GluRs. Ionotropic GluRs include the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) -type, kainate (KA)-type, and N-methyl-D-aspartate (NMDA)-type GluRs (NRs). Antibodies to the NRs have been detected using immunoblot, cell-based assays, and enzyme linked immunosorbent assay (ELISA).

Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behavior.

Duplications of the 2q33 region are rare; to date, only 13 patients have been reported to have this chromosomal abnormality. The reported duplications are of varying size, and the patients shared developmental delay and minor dysmorphic findings. In this study, we identified a duplication of 2q32.

Risk factors for hyperammonemia in pediatric patients with epilepsy.

Purpose: To identify risk factors for hyperammonemia in pediatric patients with epilepsy.

Methods: A total of 2,944 pediatric patients (ages 0-15 years) were classified into the following three groups: a group without drug treatment (n = 445, group I), a group receiving antiepileptic drugs other than valproic acid (VPA) (n = 673, group II), and a VPA-treated group (n = 1,826, group III). Hyperammonemia was defined as a plasma ammonia level exceeding 100 μg/dl with reference to the standard range and previous reports.

[Sleepiness:a frequent adverse reaction of antiepileptic drugs in patients with epilepsy after encephalitis/encephalopathy].

Objective: Patients with epilepsy after encephalitis/encephalopathy (EAE) are often on polytherapy with anti-epileptic drugs (AEDs), and are at risk of adverse reactions. We examined the adverse effects of AEDs, especially sleepiness, in these patients.

Methods: In this retrospective study, the medical records of 66 patients who were diagnosed with EAE in our hospital were reviewed and the clinical characteristics were analyzed.

[Clinical application of newer anti-epileptic drugs].

Newer anti-epileptic drugs (nAEDs) have been introduced in Japan, including zonisamide (ZNS), gabapentine (GBP), topiramate (TPM), lamotrigine (LTG), and levetiracetam (LEV). Because nAEDs have different properties from older AEDs, they may provide a better control of the seizures and a more favorable safety and tolerability profile. Indeed, the systematic meta-analyses of randomized control trials demonstrated that the odds ratios for 50% responder rate were ZNS 2.

[Long-term perspectives of epilepsy treatment and care].

A long-term treatment starts once epilepsy was diagnosed and first medication was given. In addition to seizure cessation, drug choice should orient to avoid various adverse effects in various stages of life. When 2 drugs failed to stop seizures for at least 1 year, other therapeutic options including surgery should be considered before adjusting further medications.

[Diagnostic approach for studying epileptic seizure].

Epilepsy is a chronic neurological disorder characterized by recurrent seizures that are caused by abnormal and excessive cerebral neuronal discharges. The clinical symptoms are paroxysmal, and may include impaired consciousness and/or motor, sensory, autonomic, or psychic events. Diagnosis of epilepsy is not always straightforward and clear-cut.

[Diagnostic and therapeutic scheme of autoimmune mediated encephalitis/encephalopathy].

Secondary encephalitis (encephalopathy) causally related with immune response induced by infection, etc., includes encephalitis mediated by innate immunity and adaptive immunity. In the latter, encephalitis mediated by antibodies to molecules at cell-surface of neuron seems to have relatively better outcome.

Bioavailability of intravenous fosphenytoin sodium in healthy Japanese volunteers.

To compare and evaluate the bioavailability for intravenous fosphenytoin sodium with that of intravenous phenytoin sodium in Japanese subjects. In study 1, healthy Japanese male volunteers received a 30-min infusion of 375 mg fosphenytoin sodium or an equimolar dose of 250 mg phenytoin by a double-blind, crossover method. In study 2, other healthy Japanese male volunteers received a 30-min or 10-min infusion of 563 mg fosphenytoin sodium, followed by a dose of 750 mg after 2 weeks in an unblinded manner.

Efficacy of stiripentol in hyperthermia-induced seizures in a mouse model of Dravet syndrome.

Purpose: We previously reported a mutant mouse carrying a severe myoclonic epilepsy in infancy (SMEI) mutation in Scn1a. In this study, we examined the susceptibility to hyperthermia-induced seizures of heterozygous Scn1a mutant mice (Scn1a(RX/+)) and wild-type (Scn1a(+/+) ) mice. Then we assessed the efficacy of stiripentol (STP) monotherapy versus STP and clobazam (CLB) combination therapy to prevent hyperthermia-induced seizures in Scn1a(RX/+) mice.

Open study of pranlukast add-on therapy in intractable partial epilepsy.

Innovative treatments of epileptic seizures are needed to improve the outcome of epilepsy. We studied the effect of pranlukast on seizure outcome in patients with intractable partial epilepsy. An open study was conducted to evaluate the clinical efficacy of 24-week pranlukast add-on therapy in 50 patients with intractable partial seizures.

Risk factors for hyperammonemia associated with valproic acid therapy in adult epilepsy patients.

Hyperammonemia is one of the side effects of treatment with valproic acid (VPA), but the risk factors and mechanisms involved remain obscure. This study analyzed the risk factors for hyperammonemia associated with VPA therapy in adult epilepsy patients. A retrospective analysis of 2724 Japanese patients (1217 males and 1507 females aged from 16 to 76years) treated with VPA between January 2006 and December 2010 were analyzed.

Influence of concomitant antiepileptic drugs on plasma lamotrigine concentration in adult Japanese epilepsy patients.

Lamotrigine (LTG) is an antiepileptic drug (AED) that was approved in Japan in 2008. We evaluated the influence of AEDs that induce hepatic enzymes (including phenytoin (PHT), phenobarbital (PB), carbamazepine (CBZ)), valproic acid (VPA), and various combinations of these drugs, on plasma LTG concentration in adult Japanese epilepsy patients. A total of 621 patients (mean age 34.

Self-induced seizures presumably by peri-orbital somatosensory self-stimulation: a report of two cases.

Self-induced seizures by somatosensory stimulation are rare. We describe two epileptic patients with self-induced seizures presumably by peri-orbital somatosensory stimulation. Two infants with severely delayed psychomotor development and poor visual acuity after acute subdural hemorrhage in early infancy had been diagnosed as having West syndrome.

Cutaneous adverse drug reaction in patients with epilepsy after acute encephalitis.

Patients with epilepsy after encephalitis/encephalopathy (EAE) often have refractory seizures, resulting in polytherapy with the risk of adverse reactions due to anti-epileptic drugs (AEDs). We focused on the characteristics of cutaneous adverse reaction (CAR). In this retrospective study, the medical records of 67 patients who were diagnosed as having EAE in our hospital were reviewed and the clinical characteristics were analyzed.

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.

Versive seizures in occipital lobe epilepsy: lateralizing value and pathophysiology.

To clarify the value of versive seizures in lateralizing and localizing the epileptogenic zone in patients with occipital lobe epilepsy, we studied 13 occipital lobe epilepsy patients with at least one versive seizure recorded during preoperative noninvasive video-EEG monitoring, who underwent occipital lobe resection, and were followed postoperatively for more than 2 years with Engel's class I outcome. The videotaped versive seizures were analyzed to compare the direction of version and the side of surgical resection in each patient. Moreover, we examined other motor symptoms (partial somatomotor manifestations such as tonic and/or clonic movements of face and/or limbs, automatisms, and eyelid blinking) associated with version.

[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.

Frontal lobe-mediated behavioral changes in amyotrophic lateral sclerosis: are they independent of physical disabilities?

Objective: Several studies have indicated that frontal cognitive impairment is present in patients with amyotrophic lateral sclerosis (ALS). However, it remains to be elucidated whether the behavioral change is a direct consequence of ALS pathology or the measurements are confounded by the physical impairments. We examined frontal lobe-mediated behavioral dysfunction in daily living in patients with ALS by using the family- and self-rating forms of the Frontal Systems Behavior Scale (FrSBe) and assessed the relationship between the scores and motor impairments or ventilatory status.