SCN8A p.Arg1872Gln mutation in early infantile epileptic encephalopathy type 13: Review and case report-Reference-Cited by-同舟云学术

SCN8A p.Arg1872Gln mutation in early infantile epileptic encephalopathy type 13: Review and case report

Published:2018-11-02 Issue:6 Volume:32 Page:1345-1351
ISSN:1310-2818
Container-title:Biotechnology & Biotechnological Equipment
language:en
Short-container-title:Biotechnology & Biotechnological Equipment

Author:

Atanasoska Maya¹,Vazharova Radoslava¹²,Ivanov Ivan³,Balabanski Lubomir¹,Andonova Silvia⁴,Ivanov Samuil¹,Pacheva Iliana³,Malinov Maxim¹,Toncheva Draga¹⁵

Affiliation:

1. Genetic Laboratory, Gynecology and Assisted Reproduction Hospital “Dr Malinov D.M.”, Sofia, Bulgaria;

2. Department of Biology, Medical Genetics and Microbiology, Faculty of Medicine, Sofia University “St. Kliment Ohridski”, Sofia, Bulgaria;

3. Department of Paediatrics and Medical Genetics, St. George University Hospital, Medical University - Plovdiv, Plovdiv, Bulgaria;

4. National Genetic Laboratory, University Hospital of Obstetrics and Gynecology “Maichin dom”, Medical University of Sofia, Sofia, Bulgaria;

5. Department of Medical Genetics, Faculty of Medicine, Medical University of Sofia, Sofia, Bulgaria

Publisher

Informa UK Limited

Subject

Biotechnology

Link

http://www.tandfonline.com/doi/pdf/10.1080/13102818.2018.1532815

Reference35 articles.

1. The phenotypic spectrum of SCN8A encephalopathy

2. Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy

3. De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

4. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

5. Epileptic Encephalopathies in Infants and Children

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1. SCN8A Encephalopathy: Case Report and Literature Review;Neurology International;2021-04-01

2. Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review;Frontiers in Pharmacology;2020-08-18

3. Correction;Biotechnology & Biotechnological Equipment;2018-11-02