Based on the hypothesis that epilepsy patients are dealing with child-rearing with not only weaknesses but also strengths, a questionnaire was administered to adult epilepsy patients with child-rearing experience. A total of 10 participants responded, of whom 4 (40%) were male, ranging in age from 33 to 64 (median age 43.5). 30% of the respondents had no parenting partner, and most of the parenting partners were their spouses. Respondents without a spouse also had no cooperative parenting partner. All respondents had three or fewer children, and 60% had only one child. The analysis of the open-ended responses revealed that the respondents had weaknesses such as child rearing with unexpected seizures and anxiety about the safety of their children and that supporters are expected to provide support while offering perspective. On the other hand, they also have strengths due to their knowledge of epilepsy. In addition, the responses from the male respondents were related to driving, suggesting that support for transportation is essential.

Vagus nerve stimulation is an effective treatment for drug-resistant epilepsy and the number of implants is increasing year by year in Japan. However, it is difficult to adapt VNS for patients living far away from the epilepsy center because stimulus adjustment is required to be done by a committee-certified physician. To overcome this difficulty, we attempted to perform stimulus adjustment by telemedicine using a video conferencing system. Stimulus adjustment was performed by local physician under the guidance of certified epileptologist through a web conference. To clarify the efficacy, we retrospectively investigated surveys we took on local physician regarding feasibility of the adjustment, system trouble, and handling of adverse effect, urgent contact. Twelve VNS stimulus adjustment procedures by telemedicine on 3 patients were included. In all procedure, adjustment and handling of adverse effect were successful with no system trouble and no urgent contact from patient were reported. Stimulus Adjustment by telemedicine using a video conference is feasible, safe and to be considered as a clinical choice to improve the problem of difficulties in accessing epilepsy center or certified epileptologist.

A male patient started having focal onset seizures from four months of age, and had clustering of focal onset bilateral tonic clonic seizures at age six months. Thereafter, he manifested convulsive seizures triggered by fever and bathing, myoclonic seizures triggered by vertical stripe-pattern, and ataxia. Based on a suspicion of Dravet syndrome, we examined the sequences of SCN1A and SCN2A genes and deletion in SCN1A gene by multiplex ligation-dependent probe amplification (MLPA), but no pathogenic variants or deletions were detected. Chromosome analyses found complex abnormalities in chromosome 2 and 5 as follows: 46, XY, der (2) (2pter→2q13::5q22→5q31.1::?::2q31→2qter), der (5) (5pter→5q22::?::5q31.1→5qter). Abnormal regions in chromosome 2 including SCN1A gene may contribute to the electroclinical characteristics suggesting Dravet syndrome.

We report two cases harboring a KCNQ2 variant and having developmental and epileptic encephalopathy (DEE) in whom lacosamide (LCM) was effective in treating their epilepsy. Case 1: A 5-year-old boy presented focal onset hypoventilation and tonic seizure after birth. Interictal electroencephalogram showed suppression-burst patterns. At 3 years and 10 months of age, he presented unknown onset tonic followed by atonic seizures. LCM was effective for seizures. Case 2: A 5-year-old boy presented hyperexcitability and focal onset tonic seizure after birth. At 3 years and 2 months of age, he presented focal onset right versive followed by bilateral tonic clonic seizures. LCM was effective for seizures. Severe intellectual disability, spastic quadriplegia, and DEE were demonstrated in both patients. Genetic testing revealed a missense variant in KCNQ2 in both patients. Sodium channel blockers have been reported to be effective in managing seizures in patients with KCNQ2 variants. Our experiences suggest that LCM is effective for epilepsy management in DEE with KCNQ2 variants.