A novel SCN1A mutation: A case report

Conclusion: Variant mutations of DS should be kept in mind and diagnostic genetic testing should be done in patients with neuromotor developmental retardation starting with afebrile seizures. In DS, hepatomegaly is not an expected condition. Maybe this new mutation might have caused hepatomegaly.
Source: Journal of Pediatric Neurosciences - Category: Neuroscience Authors: Source Type: research