Purpose: To define the clinical features of the syndrome of seizures associated with single, small, enhancing computed tomography (CT) lesions (SSELs) in 235 Indian probands and seizure types among their family members. Human leukocyte antigen (HLA) class II genomic typing in randomly selected 41 probands was done to identify the role of hereditary factors in this syndrome.
Methods: The seizure types among 235 probands, their clinical outcome, and seizures in their family members were studied. Family data were collected on relatives of 212 additional probands with neurologic diseases other than epilepsy. HLA class II antigens were studied by using polymerase chain reaction (PCR) amplified DNA and sequence-specific oligonucleotide probe (PCR-SSOP) hybridization.
Results: The seizures in 86% were partial with or without generalization; 77% had fewer than five seizures before the first CT scan. Evanescent focal neurologic deficits after seizures were noted in 40%. Most patients (97%) were treated with a single antiepileptic drug (AED). Significant resolution of the CT scan lesion was noted within 6 months in 125 (53%) of 235 cases. Two thirds of patients had no seizures while taking a single AED, and an additional 18% had no seizures even after their AEDs were discontinued. Epilepsy among relatives of Indian probands having seizures in association with SSELs was more common as compared with relatives of probands with other neurologic diseases. A family history of seizures was noted in 21% probands, the ratio of affected first- to second-degree relatives was 4.3:1, and 60% of affected sibs had syndromic concordance with probands. There was a positive association of HLA-DRB1*13 (Pc = 0.036) with this syndrome.
Conclusions: The syndrome of seizures in association with SSELs seems to be a benign localization-related epileptic syndrome. Our results of HLA studies point to an inherited susceptibility to an infective agent, which in most cases is of cysticercal etiology.
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http://dx.doi.org/10.1111/j.1528-1157.1999.tb02080.x | DOI Listing |
Mov Disord Clin Pract
January 2025
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Mol Syndromol
December 2024
Institute of Medical Genetics and Genomics Ganga Ram Institute of Post Graduate Medical Education and Research Sir Ganga Ram Hospital, New Delhi, India.
Am J Med Genet A
October 2024
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Several genetic disorders are associated with either a permanent deficit or a delay in central nervous system myelination. We investigated 24 unrelated families (25 individuals) with deficient myelination after clinical and radiological evaluation. A combinatorial approach of targeting and/or genomic testing was employed.
View Article and Find Full Text PDFStem Cell Res
December 2024
Department of Biophysics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India. Electronic address:
The iPSC line NIMHi013-A was generated from peripheral blood mononuclear cells of a paediatric patient with drug resistant epilepsy. The proband was found to have a likely pathogenic missense variant in the SCN1A gene in heterozygous state, which segregated in the affected in dominant fashion. The variant is in the Nav1.
View Article and Find Full Text PDFOphthalmol Glaucoma
September 2024
Wilmer Eye Institute, John Hopkins University, Baltimore, Maryland. Electronic address:
Objective: Characteristics of individuals with angle closure may be useful in targeted screening of family members. Here, we assess if findings gathered during examination and imaging of patients with a known angle-closure diagnosis (probands) could better determine the risk of angle closure in the patients' siblings.
Design: Cross-sectional study of patients with known angle closure and their siblings.
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