Publications by authors named "S H Ravat"
Article Synopsis
- Hereditary Neuralgic Amyotrophy (HNA) is an autosomal dominant disorder linked to mutations in the SEPTIN9 gene, causing episodes of severe pain and muscle atrophy, particularly affecting the brachial plexus.
- * In a study of a large family with HNA, genetic analysis showed a mutation (NM_001113491.2:p.Arg106Trp) in the SEPTIN9 gene present in six affected members, leading to significant changes in the protein's structure and function.
- * Despite sharing the same genetic mutation, affected family members exhibited a wide range of symptoms, suggesting that factors such as variable penetrance and epigenetic influences may contribute to this variability.
Objective: Efforts to understand the global variability in cognitive profiles in patients with epilepsy have been stymied by the lack of a standardized diagnostic system. This study examined the cross-cultural applicability of the International Classification of Cognitive Disorders in Epilepsy (IC-CoDE) in a cohort of patients with temporal lobe epilepsy (TLE) in India that was diverse in language, education, and cultural background.
Methods: A cohort of 548 adults with TLE from Mumbai completed a presurgical comprehensive neuropsychological evaluation.
Purpose: Naming difficulty is associated with temporal lobe epilepsy and a decline in naming ability is reported following dominant temporal lobe resections. The Boston Naming Test (BNT) is the most frequently used test for assessing naming ability. Evaluating naming ability in bilingual/multilingual populations is a challenge when participants are restricted to responding in one language.
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