Exploring the impact of somatic variant burden on seizures in focal cortical dysplasia-Reference-Cited by-同舟云学术

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Exploring the impact of somatic variant burden on seizures in focal cortical dysplasia

Published:2024-08-05 Issue:9 Volume:147 Page:2899-2901
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Gade Meethila¹,Heinzen Erin L¹²^ORCID

Affiliation:

1. Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill , Chapel Hill, NC 27599 , USA

2. Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill , Chapel Hill, NC 27599 , USA

Abstract

This scientific commentary refers to ‘Threshold of somatic mosaicism leading to brain dysfunction with focal epilepsy’ by Kim et al. (https://doi.org/10.1093/brain/awae190).

Publisher

Oxford University Press (OUP)

Link

https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awae247/58735202/awae247.pdf

Reference10 articles.

1. Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a Continuum of cortical dysplasias;D’Gama;Cell Rep,2017

2. Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy;Winawer;Ann Neurol,2018

3. Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue;Miller;Neurol Genet,2020

4. Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care;Pirozzi;Brain,2022

5. Threshold of somatic mosaicism leading to brain dysfunction with focal epilepsy;Kim;Brain,2024

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