Perioral myoclonia with absences, which is currently not recognized officially by the International League Against Epilepsy classification, is generalized epilepsy characterized by short absences with constant rhythmic contraction of the perioral muscles. The long-term outcome and features of this disease are not clear. We describe a patient with perioral myoclonia with absences, brief axial tonic seizures, and atypical absence status epilepticus, who was followed for 21 years. The efficacy of lamotrigine in this case was remarkable. This report suggests that when clinicians see a patient with absences accompanied by myoclonia limited to the facial area, perioral myoclonia with absences should be considered in terms of appropriate treatment and care for atypical absence status epilepticus.

Childhood-onset epilepsy associated with intellectual disability often becomes intractable. However, due largely to a lack of accurate information, parents tend to believe that the coexisting intellectual disability will be resolved once seizures are controlled, and incline to focus on curing the epilepsy instead of habilitating their children at an early stage to facilitate their personal growth. Unfortunately, over time, many come to regret having thought lightly about focusing on support for the disability and habilitation in younger years, as these could have made a greater difference in their children's life later on. In this article, some difficulties faced by individuals with epilepsy and intellectual disability in Japan, along with their caregivers, are presented based on the personal experience of a father in raising his daughter affected by Dravet syndrome. In the discussion, difficulties and bewilderment arising from lack of systematic transition from child care to adult care are emphasized.

Purpose: Exposure to sodium valproate (VPA) during pregnancy may increase the risk of fetal malformations and cognitive developmental deficits. We therefore assessed a clinically practical method to change treatment from VPA monotherapy to lamotrigine (LTG) monotherapy in Japanese women of childbearing potential whose seizures were controlled by VPA.

Methods: In an open-label, single arm, multicenter study, we evaluated the reduction in VPA dose and change in seizure frequency from baseline when VPA monotherapy was switched to LTG monotherapy in female patients by the following protocol. (1) The LTG dose was increased up to 200 mg/day while the initial VPA dose was maintained. (2) The VPA dose was reduced to 0 mg/day while the LTG dose was maintained. (3) When VPA was removed, the LTG dose was simultaneously increased by up to 100 mg/day. (4) The LTG dose was further adjusted. Due to the risk of break-through seizures during adjustment of VPA and LTG doses, LTG trough serum concentration was measured for seizure control.

Results: Of 33 patients enrolled, 20 completed the entire protocol, with VPA removal in 19 patients. Thirteen patients were withdrawn from the study during LTG escalation, mainly due to LTG-related skin rash (n = 8) in the early stage of LTG initiation (10 days on average). Seizures were observed once in 2 patients during LTG monotherapy (7 and 13 weeks after VPA removal).

Discussions: By paying careful attention to the occurrence of skin rash or any sign of hypersensitivity at the beginning of LTG escalation, Japanese women receiving VPA monotherapy can be converted to LTG monotherapy.