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Objective: Collaboration among medical facilities is crucial to deliver comprehensive epilepsy care to a diverse and large population of people with epilepsy. We conducted a survey among medical facilities of various sizes throughout Japan to investigate the status of epilepsy care delivery, functioning, and referral. Methods: With the cooperation of the Japan Neurological Society (1428 facilities), Japanese Neurosurgical Society (3489 specialists), and Epilepsy Care Network (948 facilities), a questionnaire was mailed to 5865 locations that provide epilepsy care in Japan. The facilities were classified into clinics (19 beds or less), small hospitals (SH, 20–199 beds), large hospitals (LH, 200 beds or more), and epilepsy centers (EC). The status of epilepsy care delivery, functioning, and referral was compared among the four groups. Results: Responses were received from 1014 facilities (17.3% response rate). After excluding duplicate responses, 957 facilities were analyzed (394 clinics, 149 SH, 388 LH, 26 EC). EC responded "manageable" in more items of epilepsy care functions in general, especially those related to epilepsy surgery, compared to LH with similar facility size. However, EC responded being less manageable in psychiatric service (61.5%), dietary therapy (46.2%), rehabilitation (53.8%), and patient employment support (61.5%). The percentage of facilities that responded "always able to refer" was highest in clinics (67.6%) and the lowest in EC (40%). Referral difficulties were more commonly encountered in EC, and less common in clinics. In EC, the most common reason for inability to refer was patient or family refusal (64%). Significance: We have clarified the epilepsy care delivery, functioning, and referral in facilities of various sizes in Japan. This study highlights the issues of downward referral and patient stagnation in EC, which have not received much attention. Plain Language Summary: A nationwide survey of healthcare facilities ranging in size from small clinics to large hospitals in Japan examined medical care delivery and patient referrals related to epilepsy. Compared to other facilities, epilepsy centers provided a variety of medical services to people with epilepsy but were inadequate in addressing psychiatric symptoms, providing dietary therapy, rehabilitation, and patient employment support. Referrals from epilepsy centers to other medical facilities were often refused by patients and their families. This results in patient crowding at epilepsy centers [ABSTRACT FROM AUTHOR]

Objective: The impact of the coronavirus disease 2019 (COVID‐19) pandemic on epilepsy care across Japan was investigated by conducting a multicenter retrospective cohort study. Methods: This study included monthly data on the frequency of (1) visits by outpatients with epilepsy, (2) outpatient electroencephalography (EEG) studies, (3) telemedicine for epilepsy, (4) admissions for epilepsy, (5) EEG monitoring, and (6) epilepsy surgery in epilepsy centers and clinics across Japan between January 2019 and December 2020. We defined the primary outcome as epilepsy center‐specific monthly data divided by the 12‐month average in 2019 for each facility. We determined whether the COVID‐19 pandemic‐related factors (such as year [2019 or 2020], COVID‐19 cases in each prefecture in the previous month, and a state of emergency) were independently associated with these outcomes. Results: In 2020, the frequency of outpatient EEG studies (−10.7%, P <.001) and cases with telemedicine (+2608%, P =.031) were affected. The number of COVID‐19 cases was an independent associated factor for epilepsy admission (−3.75 × 10−3% per case, P <.001) and EEG monitoring (−3.81 × 10−3% per case, P =.004). Furthermore, a state of emergency was an independent factor associated with outpatient with epilepsy (−11.9%, P <.001), outpatient EEG (−32.3%, P <.001), telemedicine for epilepsy (+12,915%, P <.001), epilepsy admissions (−35.3%; P <.001), EEG monitoring (−24.7%: P <.001), and epilepsy surgery (−50.3%, P <.001). Significance: We demonstrated the significant impact that the COVID‐19 pandemic had on epilepsy care. These results support those of previous studies and clarify the effect size of each pandemic‐related factor on epilepsy care. [ABSTRACT FROM AUTHOR]

Epilepsy is defined as a chronic disorder that presents with recurrent episodes of unprovoked seizures. Epileptic seizures are caused by excessive excitation of cortical neurons. The condition has various etiologies and comorbidities. Here, we introduce the definition of epilepsy and classify it based on the newly proposed ILAE (International League Against Epilepsy) classification. In addition, we explain the process of diagnosing epilepsy and delineating the epileptic focus by presenting a case description. Transient functional alterations occur in an epileptic focus only during seizures. Thus, epileptologists are required to record a detailed history and examine its semiology to determine the epileptic focus based on knowledge in neuroscience and epileptology.

Proline-rich transmembrane protein 2 ( PRRT2 ) was confirmed as the causative gene of paroxysmal kinesigenic dyskinesia (PKD) as shown by genome-wide linkage analyses. PRRT2 mutations are also associated with benign familial infantile seizures, infantile convulsions and choreoathetosis, and childhood absence epilepsy, but few reports have investigated adult-onset epilepsy. We describe here a rare presentation of adult-onset focal epilepsy with a PRRT2 mutation in a 31-year-old woman who showed cerebellar atrophy, familial paroxysmal kinesigenic dyskinesia, and paroxysmal non-kinesigenic dystonia. Video-electroencephalography (EEG) demonstrated focal impaired awareness seizures, in which ictal EEG changes showed left temporal onset with rhythmic theta activity over the left temporal region. Magnetic resonance imaging showed mild cerebellar atrophy. The administration of lamotrigine 50 mg/day resulted in freedom from her seizures and lamotrigine 150 mg/day reduced paroxysmal non-kinesigenic dystonia. Furthermore, she had a rare frameshift mutation, c.604&#95;607del, p.Ser202fs of which the pathogenicity has been reported in ClinVar, but it has not been reported in Japan. Mutation of the PRRT2 gene can cause adult-onset epilepsy, paroxysmal non-kinesigenic movement disorder, and cerebellar atrophy, suggesting an expanding clinical phenotypic spectrum associated with PRRT2 mutations., Competing Interests: The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: YT received an academic donation from Eisai., (© 2022 The Authors.)