Dr Seo-Kyung Chung
Senior Lecturer
Swansea University Medical School
Telephone: (01792) 602421
Email: JavaScript is required to view this email address.

Areas of Expertise

  • Neuroscience
  • Genetics
  • Bioinformatics
  • Molecular and cellular assays
  • Mutation analysis of neurological disorders
  • Next generation sequencing
  • Biobanking
  • Epilepsy
  • Hyperekplexia
  • Functional characterisation of mutations
  • Neurodevelomental disorders

Publications

  1. Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. The Lancet Neurology 16(2), 135-143.
  2. & Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients. Brain and Development
  3. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. The American Journal of Human Genetics 99(2), 287-298.
  4. et. al. Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. BMC Medical Genetics 17(1)
  5. & Recognisable cerebellar dysplasia associated with mutations in multiple tubulin genes. Human Molecular Genetics, ddv250

See more...

Teaching

  • PM-226 Human and Medical Genetics

    The course is designed to introduce fundamental concepts in the study of human genetics with particular reference to the application of the principles to medicine. The course covers the role of genetics in human health and disease and methods for the detection of genetic variability in human populations.

  • PM-257 Neuroscience

    In order to help students understand the biological basis for behavioural neuroscience and neurological disorders, this module seeks to integrate the multidisciplinary sciences ¿ for example, anatomy, physiology and biochemistry - that have combined to build the emerging field of neuroscience. The aim is to gain a mechanistic and holistic knowledge of the nervous system that builds from the molecular, cellular and developmental, to the systems level. In addition to exploring normal function, this module will introduce common disorders of the central and peripheral nervous systems in an integrated way. Students will be guided in exploring the scientific evidence around what is known and unknown and will be introduced to current research findings in the scientific literature.

  • PM-304 Biomolecular Research Project

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  • PM-333 Aspects of Human Sensory and Metabolic Biochemistry

    This module introduces students to the physiology and biochemistry of the Central Nervous System (CNS). Special aspects of central nervous system biochemistry such as the provision of energy for the brain, the metabolism of neurotransmitters and the role of neurotransmitters in controlling behaviour is also considered. Consideration is given to defects in the CNS and the implications for pathological states such as epilepsy, Parkinson's Disease and Multiple sclerosis. The module concludes with a description of the biochemistry and physiology of visual transduction, olfaction and sensory biochemistry.

Supervision

  • Predicting the impact of Single Nucleotide Polymorphisms through machine learning (current)

    Student name:
    PhD
    Other supervisor: Prof Mark Rees
    Other supervisor: Dr Xianghua Xie
  • Characterisation of genetic variants and their role in neurological disorders (current)

    Student name:
    PhD
    Other supervisor: Prof Mark Rees
    Other supervisor: Dr Jonathan Mullins