Summary:Purpose: Large numbers of families with many members having seizures have been used to understand the role of hereditary factors in the pathogenesis of human epileptic syndromes. We aimed to establish a genetic database to form a hypothesis on the possible genetic contributions in different epileptic syndromes.Methods: The occurrence and patterns of different epilepsies and epileptic syndromes in 1,219 Indian probands and their relatives were studied. The concordance of epilepsies between probands and relatives was also analyzed.Results: Of probands, 231 (19% of 1219) had first-or second-degree relatives affected with seizures. Incidence of family history in probands with generalized epilepsies (GES) and syndrome of single, small, enhancing lesions (SSEL) was comparable and significantly higher than that in probands with localization-related epilepsies (LRES). The ratio of affected first-to second-degree relatives was close to 4: 1. Generalized epilepsies were the commonest type of epileptic syndromes seen among all relatives. The proportion of sibs and seconddegree relatives with epileptic syndromes similar to probands was significantly greater in the GES group as compared with the concordant relatives of probands with LRES and SSEL.Conclusions: A significant percentage of first-and seconddegree relatives of probands with all types of epileptic syndromes have seizures. The risk of relatives being affected varied as a function of the relation with the proband. Concordance of epileptic syndromes between probands and relatives was related to the epileptic syndromes in probands. The syndrome of SSEL is probably a benign epileptic syndrome seen in Indians genetically predisposed to seizures. Hereditary factors may play an almost equal role in the predisposition of relatives to epilepsy in families of probands with different epileptic syndromes.

Background: Rickets is a disorder of defective mineralization due to deficiency of calcium and vitamin D and is more prevalent amongst the developing nations. Rickets has been ranked amongst the five most prevalent diseases in children of developing countries. The diagnosis of rickets is based on clinical features, biochemical studies and radiological signs and confirmed by response to treatment. Aims and Objectives: The purpose of this study is to evaluate the clinical, radiological and biochemical markers of the rickets by measuring the markers at the time of presentation, at 6 weekly intervals and after completion of treatment with standard regimen for rickets. Materials and Methods: 101 cases of nutritional rickets in age group 6 month to 18 years were allocated to receive combination therapy of calcium and vitamin-D according to their age and weight during a study period of 24 weeks. Radiographs (wrist and knee) and biochemical parameters (serum calcium, inorganic phosphate, alkaline phosphatase [ALP], and Vitamin-D), as well as clinical features, were evaluated at presentation, 6, 12, 18, and 24 weeks and response of treatment and markers were assessed at subsequent interval. clinical, radiological, biochemical parameters were evaluated statistically with Chi-square test for qualitative and 2 or more different variables by ANOVAs respectively. A P<0.05 was considered statistically significant analysis was done using Statistical Package for Social Sciences version 21.0. Results: At presentation, the mean dietary intake of calcium was low in all cases (6.11±0.78 mg/dl). Mean vitamin-D level was (23.05±8.14 ng/ml) indicative of vitamin-D deficiency. At the end of treatment (i.e., 24 weeks) clinical, radiological, and biochemical evidence of healing was observed. Normal serum ALP and complete radiological healing at 12 weeks was observed in 75% of subjects with the improvement of all markers. Conclusion: Children with rickets having low dietary calcium intake and low serum Vitamin-D levels have maximum number of markers at presentation. After intervention of combination regimen of calcium and Vitamin-D, remarkable improvement in clinical, radiological, and biochemical markers was found.