%0 Journal Article %A Suzuki, Noriomi %A Mutai, Hideki %A Miya, Fuyuki %A Tsunoda, Tatsuhiko %A Terashima, Hiroshi %A Morimoto, Noriko %A Matsunaga, Tatsuo %D 2018 %T Additional file 1: of A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10 %U https://springernature.figshare.com/articles/journal_contribution/Additional_file_1_of_A_case_report_of_reversible_generalized_seizures_in_a_patient_with_Waardenburg_syndrome_associated_with_a_novel_nonsense_mutation_in_the_penultimate_exon_of_SOX10/6338468 %R 10.6084/m9.figshare.6338468.v1 %2 https://springernature.figshare.com/ndownloader/files/11622053 %K SOX10 %K Waardenburg syndrome %K Nonsense mutation %K Delayed myelination %K Seizure attack %X Hearing test results of the proband. OAE (a) and COR (b) audiometry revealed severe hearing loss. On the ABR test, neither the right (c) nor the left (d) ear responded to click sound stimulation at 105 dBnHL. Lt, left; Rt, right. (DOCX 295 kb) %I figshare