Four Novel SCN1A Mutations in Turkish Patients With Severe Myoclonic Epilepsy of Infancy (SMEI)
Arlier Z, Bayri Y, Kolb LE, Erturk O, Ozturk AK, Bayrakli F, Bilguvar K, Moliterno JA, Dervent A, Demirbilek V, Yalcinkaya C, Korkmaz B, Tuysuz B, Gunel M. Four Novel SCN1A Mutations in Turkish Patients With Severe Myoclonic Epilepsy of Infancy (SMEI). Journal Of Child Neurology 2010, 25: 1265-1268. PMID: 20110217, DOI: 10.1177/0883073809357241.Peer-Reviewed Original ResearchMeSH KeywordsCohort StudiesEpilepsies, MyoclonicGenetic Predisposition to DiseaseHumansInfantInfant, NewbornMutationNAV1.1 Voltage-Gated Sodium ChannelNerve Tissue ProteinsSodium ChannelsConceptsSevere myoclonic epilepsyDravet syndromeTurkish patientsMyoclonic epilepsySCN1A geneNovel SCN1A mutationTonic-clonic seizuresRare genetic disorderUnilateral clonicSCN1A mutationsType 1SyndromeSpectrum of mutationsDisease phenotypeGenetic disordersNovel mutationsPatientsEpilepsyNovo mutationsFirst yearResponsible geneInfancyMutationsBroad spectrumAllelic heterogeneity