A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy-Reference-Cited by-同舟云学术

A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy

Published:2021-08-27 Issue:11 Volume:185 Page:3384-3389
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Rydzanicz Małgorzata¹^ORCID,Zwoliński Piotr²,Gasperowicz Piotr¹,Pollak Agnieszka¹^ORCID,Kostrzewa Grażyna¹,Walczak Anna¹^ORCID,Konarzewska Magdalena³^ORCID,Płoski Rafał¹^ORCID

Affiliation:

1. Department of Medical Genetics Medical University of Warsaw Warsaw Poland

2. NEUROSPHERA Epilepsy Unit Warsaw Poland

3. Department of Forensic Medicine Medical University of Warsaw Warsaw Poland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62455

Reference25 articles.

1. New insights into the generation and role of de novo mutations in health and disease

2. Alexandre Bolze F. M. SWhite FTanudjaja MIsaksson RJiang ADRossi ETCirulli MRashkin WJMetcalf JJGrzymski WLee JTLu NLWashington. (2020).A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans.https://doi.org/10.1101/798264

3. Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

4. MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

5. Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

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