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We present the clinical case of patient with epilepsy, developmental retardation and hearing loss. The whole exome sequencing allowed to reveal compound heterozygous variants  of the nucleotide sequence in SPATA5 gene (c.1714+1G>A, c.1678G>A). Mutations in the SPATA5 gene have been described  in patients with epilepsy, hearing loss and mental retardation  syndrome (MIM 616577). Paired parents were carriers of one  heterozygous gene variant. Such mutations lead to the  development of epileptic disorders in 3% of cases, and should be  considered in patients not only as a possible cause of  neurodegenerative diseases, but also leading to pathology with  clinical manifestations mimicking mitochondrial disease.

Author contributions: Isakov V, Long J, Wahl J and Helmand FA designed the study; Isakov V, Nikitin I, Chulano V and Ogurtsov P enrolled patients; Isakov V, Lukyanova E, Long J and Helmand FA analyzed the data; Isakov V and Helmand FA wrote the first draft; all authors critically reviewed and approved the final draft of the paper.Supported by Merck & Co., Inc., Kenilworth, NJ, United States. Institutional review board statement:The protocol P08160 of the study registered at ClinicalTrials.gov with identifier NCT01425203 presented in the manuscript of Isakov V et al "Boceprevir plus peginterferon/ribavirin for treatment of chronic hepatitis C in Russia" was reviewed and approved by the Institute of Nutrition (Moscow, Russia) Institutional Review Board.Clinical trial registration statement: Protocol P08160 (The Effect of Boceprevir in Russian Participants Diagnosed with Chronic Hepatitis C Genotype 1) is registered at ClinicalTrials. gov (Identifier: NCT01425203).Informed consent statement: All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2008. Informed consent was obtained from all patients included in the study.Conflict-of-interest statement: Isakov V has received research/ grant support from MSD, has served as a board member and or consultant for Abbvie, Vertex, Roche, Novartis, Janssen, and BristolMyers Squibb; has served on speakers' bureaus for BristolMyers Squibb, Janssen, Roche, and Novartis; and has received travel funding from BristolMyers Squibb and MSD Russia. Chulanov V has served on advisory boards for Roche, BristolMyers Squibb, Janssen, Novartis, and MSD Russia; has received research grants from BristolMyers Squibb; and has served on speakers' bureaus for BristolMyers Squibb, Roche, Janssen, Novartis, Gilead, AbbVie, and MSD. Ogurtsov P has served on advisory boards for ScheringPlough and delivered lectures on behalf of Abbott, Solvay, PRO.MED.CS Praha a.s., and Veropharm. Nikitin I has nothing to disclose. Lukyanova E, Long J, Wahl J and Helmond FA are current employees of Merck & Co., Inc., Kenilworth, NJ, United States. Abstract AIM: to evaluate addition of boceprevir to peginterferon/ribavirin (PR) in Russian patients with chronic hepatitis C virus (HCV).METHODS: treatment-naive (tN) and treatmentexperienced (tE) patients (who had failed prior treatment with PR for ≥ 12 wk) with chronic HCV genotype 1 infection were enrolled in this placebocontrolled, double-blind study. All patients initially received PR for 4 wk. Patients randomized to control treatment then received PR for an additional 44 wk. tN patients randomized to triple therapy received boceprevir (800 mg three times daily) plus PR for 24 wk and then further therapy according to treatment week 8 (tW8) HCV RNA levels. tE patients received boceprevir plus PR for 32 wk and then further therapy according to tW8 HCV RNA levels. treatment was discontinued for tN patients with detecta...

Проблемная комиссия «Эпилепсия. Пароксизмальные состояния» РАН и Министерства здравоохранения Российской Федерации Российская Противоэпилептическая Лига 2016 Том 8 №1 Включен в перечень ведущих рецензируемых журналов и изданий ВАК