Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy-Reference-Cited by-同舟云学术

Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy

Published:2015-12-21 Issue:2 Volume:3 Page:114-123
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Wagnon Jacy L.¹,Barker Bryan S.²,Hounshell James A.²,Haaxma Charlotte A.³,Shealy Amy⁴,Moss Timothy⁴,Parikh Sumit⁵,Messer Ricka D.⁶,Patel Manoj K.²,Meisler Miriam H.¹

Affiliation:

1. Department of Human Genetics University of Michigan Ann Arbor Michigan

2. Department of Anesthesiology and Neuroscience Graduate Program University of Virginia Health System Charlottesville Virginia

3. Department of Pediatric Neurology Radboud University Nijmegen The Netherlands

4. Cleveland Clinic Genomic Medicine Institute Cleveland Ohio

5. Department of Pediatric Neurology Cleveland Clinic Cleveland Ohio

6. Department of Pediatric Neurology Johns Hopkins Medical Institute Baltimore Maryland

Funder

National Institutes of Health

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.276

Reference40 articles.

1. The phenotypic spectrum of SCN8A encephalopathy

2. SCN8Amutations in Chinese children with early onset epilepsy and intellectual disability

3. Early onset epileptic encephalopathy caused by de novoSCN8Amutations

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

5. Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy

Cited by 100 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Modeling Cortical Versus Hippocampal Network Dysfunction in a Human Brain Assembloid Model of Epilepsy and Intellectual Disability;2024-09-08

2. The Spectrum of Self-Limited Infantile Epilepsy Syndromes;Journal of Pediatric Epilepsy;2024-09-05

3. Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-06

4. Molecular and cellular context influences SCN8A variant function;JCI Insight;2024-05-21

5. Options in Targeted Therapy for Advanced Cholangiocarcinoma: A 2024 Update;Cureus;2024-05-07