Childhood absence epilepsy (CAE), a common form of idiopathic generalized epilepsy, accounts for 5%-15% of childhood epilepsies. To map the chromosomal locus of persisting CAE, we studied the clinical and electroencephalographic traits of 78 members of a five-generation family from Bombay, India. The model-free affected-pedigree member method was used during initial screening with chromosome 6p, 8q, and 1p microsatellites, and only individuals with absence seizures and/or electroencephalogram 3-4-Hz spike- and multispike-slow wave complexes were considered to be affected. Significant P values of .00000-.02 for several markers on 8q were obtained. Two-point linkage analysis, assuming autosomal dominant inheritance with 50% penetrance, yielded a maximum LOD score (Zmax) of 3.6 for D8S502. No other locus in the genome achieved a significant Zmax. For five smaller multiplex families, summed Zmax was 2.4 for D8S537 and 1.7 for D8S1761. Haplotypes composed of the same 8q24 microsatellites segregated with affected members of the large family from India and with all five smaller families. Recombinations positioned the CAE gene in a 3.2-cM interval.
International audienceEpilepsy is a major chronic noncommunicable neurologic disorder. Although a simple, safe, efficacious, and low-cost treatment has been available for nearly 100 years, the treatment gap remains disturbingly high in many low- and middle-income countries (LMICs).[1] Treatment gap is generally defined as a “difference between the number of people with active epilepsy and the number being appropriately treated.” There are many reasons for this treatment gap; one important reason is an overly restrictive regulation on barbiturates such as phenobarbital (PB). These restrictive regulations deserve a wider and open discussion, even though epileptologists and others are intensely engaged on reducing the epilepsy treatment gap. With this article, we provide our viewpoint with an aim of raising an extremely important issue: undue regulatory restriction on phenobarbital, an essential lifesaving antiepileptic drug (AED)
To assess the impact of ongoing COVID-19 pandemic on epilepsy care in India. Methods: We conducted a three-part survey comprising neurologists, people with epilepsy (PWE), and 11 specialized epilepsy centers across India. We sent two separate online survey questionnaires to Indian neurologists and PWE to assess the epilepsy practice, seizures control, and access to care during the COVID-19 pandemic. We collected and compared the data concerning the number of PWE cared for and epilepsy procedures performed during the 6 months periods preceding and following COVID-19 lockdown from epilepsy centers. Results: The survey was completed by 453 neurologists and 325 PWE. One third of the neurologist reported >50 % decline in outdoor visits by PWE and EEG recordings. The cumulative data from 11 centers showed 65-70 % decline in the number of outdoor patients, video-EEG monitoring, and epilepsy surgery. Working in a hospital admitting COVID-19 patients and use of teleconsultation correlated with this decline. Half of PWE had postponed their planned outpatient visits and EEG. Less than 10 % of PWE missed their antiseizure medicines (ASM) or had seizures due to the nonavailability of ASM. Seizure control remained unchanged or improved in 92 % PWE. Half of the neurologists started using teleconsultation during the pandemic. Only 4% of PWE were afflicted with COVID-19 infection. Conclusions: Despite significant decline in the number of PWE visiting hospitals, their seizure control and access to ASMs were not affected during the COVID-19 pandemic in India. Risk of COVID-19 infection in PWE is similar to general population.
Mesial temporal lobe epilepsy is one of the commonest indications for epilepsy surgery. Presurgical evaluation for drug resistant epilepsy and identification of appropriate candidates for surgery is essential for optimal seizure freedom. The anatomy of mesial temporal lobe is complex and needs to be understood in the context of the advanced imaging, ictal and interictal Video_EEG monitoring, neuropsychology and psychiatric considerations. The completeness of disconnection of epileptogenic neural networks is paramount and is correlated with the extent of resection of the mesial temporal structures. In the Indian subcontinent, a standard but extended anterior temporal lobectomy is a viable option in view of the diverse socioeconomic, cultural and pathological considerations. The maximum utilization of epilepsy surgery services in this region is also a challenge. There is a need for regional comprehensive epilepsy care teams in a tertiary care academic hospital to form centers of excellence catering to a large population.
The success of epilepsy surgery depends upon accurate localization and complete resection of the epileptogenic tissue, both of which are aided by intraoperative EcoG.Thus, intraoperative EcoG is a useful adjunct in epilepsy surgery to achieve optimal seizure freedom in cases of MTS plus, focal cortical dysplasia and tumors. Even the patients who are not seizure free can achieve worthwhile improvement post surgery.
Epilepsy surgery is one of the most accepted and beneficial treatment for resistant epilepsies. However there is some variability in the comprehensive epilepsy care programs offered globally. Many centers do not do a psychiatric assessment unless required. It is now evident from a large body of research that epilepsy is associated with psychiatric morbidity which is also seen in patients considered for epilepsy surgery. There is also evidence to state that the risk for worsening or de novo psychiatric disorders is often seen post surgery. This calls for a comprehensive psychiatric assessment of all patients enrolled for the epilepsy surgery program to be evaluated pre and post surgically to minimize the risk of post surgical psychological disturbances and/or poor quality of life. Efficacious treatment of psychiatric disorders in those having psychiatric morbidity contributes to improved patient wellbeing, seizure freedom and better quality of life. Hence there is a need for most centers globally to include regular psychiatric assessment of epilepsy surgery patients as a protocol.
A prospective, multicentric, noncomparative open-label observational study was conducted to evaluate the safety and efficacy zonisamide in Indian adult patients for the treatment of partial, generalized, or combined seizures. A total of 655 adult patients with partial, generalized, or combined seizures from 30 centers across India were recruited after initial screening. Patients received 100 mg zonisamide as initiating dose as monotherapy/adjunctive therapy for 24 weeks, with titration of 100 mg every 2 weeks if required. Adverse events, responder rates, and seizure freedom were observed every 4 weeks. Efficacy and safety were also assessed using Clinicians Global Assessment of Response to Therapy and Patients Global Assessment of Tolerability to Therapy, respectively. Follow-up was conducted for a period of 24 weeks after treatment initiation. A total of 655 patients were enrolled and received the treatment and 563 completed the evaluation phase. A total of 20.92% of patients received zonisamide as monotherapy or alternative monotherapy and 59.85% patients received zonisamide as first adjunctive therapy. Compared with baseline, 41.22% of patients achieved seizure freedom and 78.6% as responder rate at the end of 24 week study. Most commonly reported adverse events were loss of appetite, weight loss, sedation, and dizziness, but discontinuation due to adverse events of drug was seen in 0.92% of patients. This open label real-world study suggests that zonisamide is an effective and well-tolerated antiepileptic drug in Indian adults for treatment of partial, generalized as well as combined seizures type. No new safety signals were observed.
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