2015
The distinct genetic pattern of ALS in Turkey and novel mutations
Özoğuz A, Uyan Ö, Birdal G, Iskender C, Kartal E, Lahut S, Ömür Ö, Agim ZS, Eken A, Sen NE, Kavak P, Saygı C, Sapp PC, Keagle P, Parman Y, Tan E, Koç F, Deymeer F, Oflazer P, Hanağası H, Gürvit H, Bilgiç B, Durmuş H, Ertaş M, Kotan D, Akalın M, Güllüoğlu H, Zarifoğlu M, Aysal F, Döşoğlu N, Bilguvar K, Günel M, Keskin Ö, Akgün T, Özçelik H, Landers JE, Brown RH, Başak A. The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiology Of Aging 2015, 36: 1764.e9-1764.e18. PMID: 25681989, PMCID: PMC6591733, DOI: 10.1016/j.neurobiolaging.2014.12.032.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdolescentAdultAgedAmyotrophic Lateral SclerosisAutophagy-Related ProteinsC9orf72 ProteinCell Cycle ProteinsCytoskeletal ProteinsDNA-Binding ProteinsExomeFemaleGenetic Association StudiesGuanine Nucleotide Exchange FactorsHumansIntracellular Signaling Peptides and ProteinsMaleMembrane Transport ProteinsMiddle AgedMutationNerve Tissue ProteinsNuclear ProteinsOncogene ProteinsProtein Deglycase DJ-1Protein Serine-Threonine KinasesProteinsRNA-Binding Protein FUSSequestosome-1 ProteinSuperoxide DismutaseSuperoxide Dismutase-1Transcription Factor TFIIIATRPM Cation ChannelsTurkeyUbiquitinsYoung AdultConceptsALS patientsFamilial ALS patientsSporadic ALS casesSALS patientsALS populationALS casesFamilial ALSSOD1 mutationsSQSTM1 genePatientsDistinct genetic patternsAmyotrophic lateral sclerosis mutationsExome sequencingDistinct genetic backgroundsGene mutationsSpectrum of mutationsNovel mutationsC9orf72Genetic backgroundALSMutationsPopulationSPG11TARDBP
2010
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 ResearchConceptsSevere 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