Ceulemans, Berten P G M <br/><br/>
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.  [electronic resource] 

 -  Pediatric neurology  Apr 2004 
 - 236-43 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>0887-8994 
<br/><br/><label>Standard No.: </label>10.1016/j.pediatrneurol.2003.10.012  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Child, Preschool<br/>Codon, Nonsense--genetics<br/>DNA Mutational Analysis<br/>Electroencephalography<br/>Epilepsies, Myoclonic--diagnosis<br/>Epilepsy, Generalized--diagnosis<br/>Exons--genetics<br/>Female<br/>Frameshift Mutation--genetics<br/>Genotype<br/>Humans<br/>Infant<br/>Intellectual Disability--diagnosis<br/>Male<br/>Mutation, Missense--genetics<br/>NAV1.1 Voltage-Gated Sodium Channel<br/>Nerve Tissue Proteins--genetics<br/>Phenotype<br/>Seizures, Febrile--diagnosis<br/>Sodium Channels--genetics<br/>Syndrome