Complex Mosaicism of Two Distinct Mutations in a Female Patient With KCNA2-Related Encephalopathy: A Case Report-Reference-Cited by-同舟云学术

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Complex Mosaicism of Two Distinct Mutations in a Female Patient With KCNA2-Related Encephalopathy: A Case Report

Published:2020-08-12 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Gong Pan,Jiao Xianru,Zhang Yuehua,Yang Zhixian

Funder

National Natural Science Foundation of China

Beijing Municipal Science and Technology Commission

Natural Science Foundation of Beijing Municipality

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference24 articles.

1. Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.;Bartnik;Genet. Med.,2011

2. A genomic view of mosaicism and human disease.;Biesecker;Nat. Rev. Genet.,2013

3. Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.;Boutry-Kryza;Am. J. Med. Genet. Part A,2014

4. Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.;Canafoglia;Seizures,2019

5. Recent advances in the study of somatic mosaicism and diseases other than cancer.;Erickson;Curr. Opin. Genet. Dev.,2014

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1. Double gonosomal mosaicism as an unusual hereditary mechanism in familialGRIN2A-related disorder;Journal of Medical Genetics;2024-07-31

2. Translational veterinary epilepsy: A win-win situation for human and veterinary neurology;The Veterinary Journal;2023-03

3. Potassium channels and epilepsy;Acta Neurologica Scandinavica;2022-10-12

4. Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants;Frontiers in Neurology;2022-02-01

5. Next-Generation Sequencing Technologies and Neurogenetic Diseases;Life;2021-04-19

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