Influence of age at seizure onset on the acquisition of neurodevelopmental skills in an SCN8A cohort-Reference-Cited by-同舟云学术

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Influence of age at seizure onset on the acquisition of neurodevelopmental skills in an SCN8A cohort

Published:2019-07-23 Issue:8 Volume:60 Page:1711-1720
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Encinas Alejandra C.¹,Moore Ida (Ki) M.²,Watkins Joseph C.¹³,Hammer Michael F.¹⁴^ORCID

Affiliation:

1. Graduate Interdisciplinary Program in Genetics University of Arizona Tucson Arizona

2. College of Nursing University of Arizona Tucson Arizona

3. Department of Mathematics University of Arizona Tucson Arizona

4. Department of Neurology University of Arizona Tucson Arizona

Funder

National Institutes of Health

National Science Foundation

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.16288

Reference26 articles.

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

2. McKusickVA. OMIM: Online Mendelian Inheritance in Man.2018. Available at:https://omim.org/. Accessed on June 1 2018.

3. Seizures and Epilepsy: An Overview for Neuroscientists

4. The spectrum of intermediate SCN 8A ‐related epilepsy

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1. Genotype–phenotype correlations in Polish patients with SCN8A-related epilepsy: A multicentre observational study;Seizure: European Journal of Epilepsy;2024-08

2. Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A‐related epilepsy and/or neurodevelopmental disorders;Epilepsia;2024-05-27

3. Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants;Biology Open;2024-04-15

4. Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A‐related epilepsy;Epilepsia;2023-10-12

5. Genetic Mutations That Lead to Ohtahara Syndrome and Childhood Absence Epilepsy;Highlights in Science, Engineering and Technology;2022-08-17

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