Neurotransmitters and Sodium Channelopathies; Possible Link?

Investigators from the University of British Columbia, Great Ormond Street Hospital for Children, and the National Hospital reported their findings on neurotransmitter deficiencies in two patients with mutations in voltage-gated sodium genes (SCN2A and SCN8A) discovered by whole exome sequencing.

Detalles Bibliográficos
Autores principales: Hammer, Michael F., Encinas, Alejandra D.C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pediatric Neurology Briefs Publishers 2017
Materias:
Genetic Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681457/
https://www.ncbi.nlm.nih.gov/pubmed/29184379
http://dx.doi.org/10.15844/pedneurbriefs-31-3-1
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author Hammer, Michael F.
Encinas, Alejandra D.C.
author_facet Hammer, Michael F.
Encinas, Alejandra D.C.
author_sort Hammer, Michael F.
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description Investigators from the University of British Columbia, Great Ormond Street Hospital for Children, and the National Hospital reported their findings on neurotransmitter deficiencies in two patients with mutations in voltage-gated sodium genes (SCN2A and SCN8A) discovered by whole exome sequencing.
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spelling pubmed-56814572017-11-28 Neurotransmitters and Sodium Channelopathies; Possible Link? Hammer, Michael F. Encinas, Alejandra D.C. Pediatr Neurol Briefs Genetic Disorders Investigators from the University of British Columbia, Great Ormond Street Hospital for Children, and the National Hospital reported their findings on neurotransmitter deficiencies in two patients with mutations in voltage-gated sodium genes (SCN2A and SCN8A) discovered by whole exome sequencing. Pediatric Neurology Briefs Publishers 2017-11 2017-11-10 /pmc/articles/PMC5681457/ /pubmed/29184379 http://dx.doi.org/10.15844/pedneurbriefs-31-3-1 Text en Copyright: © 2017 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Genetic Disorders
Hammer, Michael F.
Encinas, Alejandra D.C.
Neurotransmitters and Sodium Channelopathies; Possible Link?
title Neurotransmitters and Sodium Channelopathies; Possible Link?
title_full Neurotransmitters and Sodium Channelopathies; Possible Link?
title_fullStr Neurotransmitters and Sodium Channelopathies; Possible Link?
title_full_unstemmed Neurotransmitters and Sodium Channelopathies; Possible Link?
title_short Neurotransmitters and Sodium Channelopathies; Possible Link?
title_sort neurotransmitters and sodium channelopathies; possible link?
topic Genetic Disorders
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681457/
https://www.ncbi.nlm.nih.gov/pubmed/29184379
http://dx.doi.org/10.15844/pedneurbriefs-31-3-1
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