Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A
Author:
Funder
Takeda Science Foundation
Japan Agency for Medical Research and Development
Japan Society for the Promotion of Science
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
Reference23 articles.
1. De novo SCN1A mutations in migrating partial seizures of infancy;Carranza Rojo;Neurology,2011
2. Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype;Sadleir;Neurology,2017
3. Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlations;Spagnoli;Seizure,2019
4. Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation;Ohashi;Epileptic Disord,2014
5. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications;Brunklaus;Brain,2022
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