Version 1
: Received: 12 December 2023 / Approved: 14 December 2023 / Online: 14 December 2023 (11:45:24 CET)
Version 2
: Received: 6 August 2024 / Approved: 6 August 2024 / Online: 7 August 2024 (00:30:58 CEST)
How to cite:
Tayade, N.; A, A. K.; Manoj, G.; Kewat, A.; Devulapalli, R.; Kumar, S.; Polipalli, S. K.; Nair, B. G.; Bandapalli, O. R.; Suravajhala, P. Genomic Exploration of Pediatric Neurological Diversity: Lessons from Clinical Exome Panel Sequencing. Preprints2023, 2023121095. https://doi.org/10.20944/preprints202312.1095.v2
Tayade, N.; A, A. K.; Manoj, G.; Kewat, A.; Devulapalli, R.; Kumar, S.; Polipalli, S. K.; Nair, B. G.; Bandapalli, O. R.; Suravajhala, P. Genomic Exploration of Pediatric Neurological Diversity: Lessons from Clinical Exome Panel Sequencing. Preprints 2023, 2023121095. https://doi.org/10.20944/preprints202312.1095.v2
Tayade, N.; A, A. K.; Manoj, G.; Kewat, A.; Devulapalli, R.; Kumar, S.; Polipalli, S. K.; Nair, B. G.; Bandapalli, O. R.; Suravajhala, P. Genomic Exploration of Pediatric Neurological Diversity: Lessons from Clinical Exome Panel Sequencing. Preprints2023, 2023121095. https://doi.org/10.20944/preprints202312.1095.v2
APA Style
Tayade, N., A, A. K., Manoj, G., Kewat, A., Devulapalli, R., Kumar, S., Polipalli, S. K., Nair, B. G., Bandapalli, O. R., & Suravajhala, P. (2024). Genomic Exploration of Pediatric Neurological Diversity: Lessons from Clinical Exome Panel Sequencing. Preprints. https://doi.org/10.20944/preprints202312.1095.v2
Chicago/Turabian Style
Tayade, N., Obul Reddy Bandapalli and Prashanth Suravajhala. 2024 "Genomic Exploration of Pediatric Neurological Diversity: Lessons from Clinical Exome Panel Sequencing" Preprints. https://doi.org/10.20944/preprints202312.1095.v2
Abstract
Background: Pediatric neurological disorders include neurodegenerative disease causing cognitive impairment, vision loss to mention a few. They are one of the important causes of morbidity and mortality in children with diverse etiology. Diagnosis is difficult in spite of genetic work and in only 60% of cases final diagnosis can be achieved. Case presentation: We explore three cases of pediatric neurological diseases, viz. Arthrogryposis, congenital bilateral cataract and Autism by analyzing clinical exomes. In this work, we attempted to understand rare neurological disorders in an Indian pediatric cohort using exome studies.Conclusions: We used our benchmarked CONVEX pipeline for screening consensus variants, wherein EIF2B2 was found to be inherently pathogenic. We map the association of variants and genes, disease correlation to neuroleptic malignant syndrome which is a matching phenotype to the cases.
Medicine and Pharmacology, Pediatrics, Perinatology and Child Health
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
