Application of single cell genomics to focal epilepsies: A call to action.
focal epilepsy
single cell genomics
somatic variant
Journal
Brain pathology (Zurich, Switzerland)
ISSN: 1750-3639
Titre abrégé: Brain Pathol
Pays: Switzerland
ID NLM: 9216781
Informations de publication
Date de publication:
07 2021
07 2021
Historique:
received:
11
03
2021
accepted:
17
03
2021
entrez:
1
7
2021
pubmed:
2
7
2021
medline:
3
2
2022
Statut:
ppublish
Résumé
Focal epilepsies are the largest epilepsy subtype and associated with significant morbidity. Somatic variation is a newly recognized genetic mechanism underlying a subset of focal epilepsies, but little is known about the processes through which somatic mosaicism causes seizures, the cell types carrying the pathogenic variants, or their developmental origin. Meanwhile, the inception of single cell biology has completely revolutionized the study of neurological diseases and has the potential to answer some of these key questions. Focusing on single cell genomics, transcriptomics, and epigenomics in focal epilepsy research, circumvents the averaging artifact associated with studying bulk brain tissue and offers the kind of granularity that is needed for investigating the consequences of somatic mosaicism. Here we have provided a brief overview of some of the most developed single cell techniques and the major considerations around applying them to focal epilepsy research.
Identifiants
pubmed: 34196990
doi: 10.1111/bpa.12958
pmc: PMC8412079
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
e12958Subventions
Organisme : NINDS NIH HHS
ID : R25 NS065743
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH106883
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS035129
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS032457
Pays : United States
Organisme : NINDS NIH HHS
ID : L30 NS118655
Pays : United States
Informations de copyright
© 2021 The Authors. Brain Pathology published by John Wiley & Sons Ltd on behalf of International Society of Neuropathology.
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