A relatively mild phenotype associated with mutation of SCN8A
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology,General Medicine
Reference4 articles.
1. SCN8A encephalopathy: research progress and prospects;Meisler;Epilepsia,2016
2. Autosomal dominant SCN8A mutation with an unusually mild phenotype;Anand;Eur J Paediatr Neurol,2016
3. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation;Gardella;Ann Neurol,2016
4. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders;Trump;J Med Genet,2016
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1. SCN8A gain-of-function mutation is associated with a relatively mild phenotype of epilepsy;2023-08-15
2. Clinical characteristics and treatment experience of individuals with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE): Findings from an online caregiver survey;Seizure;2022-04
3. Phenotypic and genetic spectrum in Chinese children with SCN8A-related disorders;Seizure;2022-02
4. Clinical Characteristics and Treatment Experience of Individuals with SCN8A Developmental and Epileptic Encephalopathy (SCN8A-DEE): Findings from an Online Caregiver Survey;2021-12-02
5. The transcriptomic blueprint of molt in rooster using various tissues from Ginkkoridak (Korean long-tailed chicken);BMC Genomics;2021-08-05
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