Clinical characteristics and treatment experience of individuals with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE): Findings from an online caregiver survey-Reference-Cited by-同舟云学术

Clinical characteristics and treatment experience of individuals with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE): Findings from an online caregiver survey

Published:2022-04 Issue: Volume:97 Page:50-57
ISSN:1059-1311
Container-title:Seizure
language:en
Short-container-title:Seizure

Author:

Cutts Alison^ORCID,Savoie Hillary,Hammer Michael F.^ORCID,Schreiber John^ORCID,Grayson Celene,Luzon Constanza,Butterfield Noam,Pimstone Simon N.,Aycardi Ernesto,Harden Cynthia,Yonan Chuck,Jen Eric^ORCID,Nguyen Trung,Carmack Tara,Haubenberger Dietrich^ORCID

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology,General Medicine

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4. Influence of age at seizure onset on the acquisition of neurodevelopmental skills in an SCN8A cohort;Encinas;Epilepsia,2019

5. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP;Veeramah;Am J Hum Genet,2012

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1. SCN8A Encephalopathy with a Significant Long-Term Response to Lacosamide;Journal of Pediatric Neurology;2024-06-26

2. 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

3. Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti‐seizure medication;American Journal of Medical Genetics Part A;2023-10-12

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. Therapeutic efficacy of voltage-gated sodium channel inhibitors in epilepsy;Acta Epileptologica;2023-06-28