Functional analysis of a mutation in the SCN1A gene associated with Dravet syndrome

Updated: 2 months ago
Deadline: 31 Oct 2022

PhD study programme: Physiology, Pathological Physiology, Medical Chemistry and Biochemistry
Specialization: Physiology
Form of the study: PhD full-time study
Workplace: Department of Physiology, Faculty of Medicine, Masaryk University
Supervisor: Assoc. Prof. Markéta Bébarová, MD, PhD
Topic of the PhD study:
Functional analysis of a mutation in the SCN1A gene associated with Dravet syndrome

Annotation:

Sodium current through Nav1.1 channels plays an important role in neuronal depolarization. Mutations in the SCN1A gene encoding the structure of the α-subunit of Nav1.1 channels are the most common cause of monogenic epilepsy, which can manifest itself in its most severe form as the so-called Dravet syndrome. As a part of this project, functional analysis of a mutation in the SCN1A gene associated with Dravet syndrome selected from the FN Brno registry will be performed (cell line cultivation and its transient transfection with wild-type and mutated Nav1.1 channels; measurement by whole cell patch clamp technique).
The goal of the thesis will be to master the necessary methodologies and, with their help, to analyse changes in the function of Nav1.1 channels in the presence of a selected mutation associated with Dravet syndrome.

Grant Support: Grant Agency of MU – Specific Research
Availability of Workload or Project Financing (beyond the scholarship from MU):
Scholarship from the Specific Research at MU, workload from a grant project. The workload from the institutional budget is at the discretion of the head of the department after the student is involved in teaching.

A brief overview of requirements according to the doctoral board:

  • completion of compulsory courses
  • completion of the compulsory internship abroad (at least 1 month-stay) or participation in an international project with results published/presented abroad or another form of direct participation in an international cooperation
  • at least one first author publication in a journal with IF above the median IF in the field (or two first author publications in a journal with IF in Q3)
  • participation in teaching undergraduate students
  • good passive as well as active knowledge of English (basic knowledge of Czech beneficial)

Supervisor:

Assoc. Prof. Markéta Bébarová, MD, PhD (mbebar@med.muni.cz )

  • publication activity: 47 papers in extenso (30 in journals with IF - 26 original research papers and 4 review papers), h-index 11
  • recent grant projects: AZV (NU22-02-00348, 2022-2025; 16-30571A, 2016-2020); National Institute for Neurological Research (LX22NPO5107, 2022-2025); GAČR (GA22-28784S, 2022-2024); Grant Agency of MU (e.g. MUNI/A/1133/2021 and MUNI/A/1246/2020); Internal Project of LF MU (MUNI/11/SUP/07/2020, MUNI/11/SUP/18/2020)
  • international cooperation in the field of study: prof. Gavin Woodhall (Aston University, Birmingham, UK)
  • supervised PhD students/PhD graduates: 3/0

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