Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlations
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology,General Medicine
Reference3 articles.
1. GeneReviews® [internet];Miller,2018
2. Not all SCN1A epileptic encephalopathies are Dravet syndrome: early profound Thr226Met phenotype;Sadleir;Neurology,2017
3. Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation;Ohashi;Epileptic Disord,2014
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1. Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study;International Journal of Molecular Sciences;2024-01-19
2. Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A;Brain and Development;2023-10
3. Gain of function SCN1A disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication;Epilepsia;2023-01-26
4. A new look at the clinical and molecular characteristics of SCN1A-related developmental and epileptic encephalopathies;Aktualności Neurologiczne;2022-12-07
5. Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway;Frontiers in Pediatrics;2022-08-01
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