Genetic Testing in Neurology: What Every Neurologist Must Know

Approximately 80% genes have an active expression in the brain and 40% of known genetic disorders affect the central nervous system. Revolutionary techniques like next-genome sequencing have solved the problem of the diagnostic odyssey in neurological genetic diseases. As several studies have shown...

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Autores principales: Salunkhe, Manish, Agarwal, Ayush, Faruq, Mohd., Srivastava, Achal Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
AIAN Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9350807/
https://www.ncbi.nlm.nih.gov/pubmed/35936600
http://dx.doi.org/10.4103/aian.aian_855_21
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author Salunkhe, Manish
Agarwal, Ayush
Faruq, Mohd.
Srivastava, Achal Kumar
author_facet Salunkhe, Manish
Agarwal, Ayush
Faruq, Mohd.
Srivastava, Achal Kumar
author_sort Salunkhe, Manish
collection PubMed
description Approximately 80% genes have an active expression in the brain and 40% of known genetic disorders affect the central nervous system. Revolutionary techniques like next-genome sequencing have solved the problem of the diagnostic odyssey in neurological genetic diseases. As several studies have shown the cost-effectiveness of next-genome sequencing compared to the older tests available in our diagnostic armamentarium, it becomes imperative to know about these genetic mutations and the tests available to diagnose them. We have tried to explain the basic concepts of genetics, the selection of available tests and their interpretation for neurophysicians.
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spelling pubmed-93508072022-08-05 Genetic Testing in Neurology: What Every Neurologist Must Know Salunkhe, Manish Agarwal, Ayush Faruq, Mohd. Srivastava, Achal Kumar Ann Indian Acad Neurol AIAN Review Approximately 80% genes have an active expression in the brain and 40% of known genetic disorders affect the central nervous system. Revolutionary techniques like next-genome sequencing have solved the problem of the diagnostic odyssey in neurological genetic diseases. As several studies have shown the cost-effectiveness of next-genome sequencing compared to the older tests available in our diagnostic armamentarium, it becomes imperative to know about these genetic mutations and the tests available to diagnose them. We have tried to explain the basic concepts of genetics, the selection of available tests and their interpretation for neurophysicians. Wolters Kluwer - Medknow 2022 2022-06-14 /pmc/articles/PMC9350807/ /pubmed/35936600 http://dx.doi.org/10.4103/aian.aian_855_21 Text en Copyright: © 2022 Annals of Indian Academy of Neurology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle AIAN Review
Salunkhe, Manish
Agarwal, Ayush
Faruq, Mohd.
Srivastava, Achal Kumar
Genetic Testing in Neurology: What Every Neurologist Must Know
title Genetic Testing in Neurology: What Every Neurologist Must Know
title_full Genetic Testing in Neurology: What Every Neurologist Must Know
title_fullStr Genetic Testing in Neurology: What Every Neurologist Must Know
title_full_unstemmed Genetic Testing in Neurology: What Every Neurologist Must Know
title_short Genetic Testing in Neurology: What Every Neurologist Must Know
title_sort genetic testing in neurology: what every neurologist must know
topic AIAN Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9350807/
https://www.ncbi.nlm.nih.gov/pubmed/35936600
http://dx.doi.org/10.4103/aian.aian_855_21
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