Emerging evidence of genotype–phenotype associations of developmental and epileptic encephalopathy d...
Emerging evidence of genotype–phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G
About this item
Full title
Author / Creator
Wang, Sumei , Yu, Yejing , Wang, Xu , Deng, Xiaolong , Ma, Jiehui , Liu, Zhisheng , Gu, Weiyue and Sun, Dan
Publisher
Lausanne: Frontiers Research Foundation
Journal title
Language
English
Formats
Publication information
Publisher
Lausanne: Frontiers Research Foundation
Subjects
More information
Scope and Contents
Contents
Developmental and epileptic encephalopathies (DEEs) have high genetic heterogeneity, and DEE due to the potassium voltage-gated channel subfamily C member 2 (KCNC2) variant remains poorly understood, given the scarcity of related case studies. We report on two unrelated Chinese patients, an 11-year-old boy and a 5-year-old girl, diagnosed with glob...
Alternative Titles
Full title
Emerging evidence of genotype–phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_a921e281e82d49039f8fd81d01a84e1a
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a921e281e82d49039f8fd81d01a84e1a
Other Identifiers
ISSN
1662-5099
E-ISSN
1662-5099
DOI
10.3389/fnmol.2022.950255
