Other Interdiciplinary Incentives

  • Neuroscience
  • Research Focus


  • Genetic Disorders
  • Presynaptic Mechanisms
  • Neurodevelopmental Disorders
  • Functional Networks
  • Clinical Conditions

  • Genetic disorders
  • Equipment & Techniques

  • Statistical analysis
  • Electroencephalography (EEG)
  • Neuropsychological testing
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    Miss Josefine Eck

    University Position
    Research Assistant


    I am a Research Assistant at the MRC Cognition and Brain Sciences Unit (MRC CBU), University of Cambridge. I joined the Genomic Disorders and Cognitive Development Group led by Dr Kater Baker during my graduate degree in Basic and Translational Neuroscience early 2022. I am primarily involved in participant recruitment, data collection, and analysis for the Brain and Behaviour in Neurodevelopmental Disorders of Genetic Origin (BINGO) project. In this project, we aim to better understand the phenotypic spectrum of monogenic disorders converging on presynaptic dysfunction, which we hope will improve diagnostic yield, prognostication, and personalised support for patients and families affected by rare disease.

    Key Publications

    Biallelic CACNA1A variants – review of literature and report of a child with drug-resistant epilepsy and developmental delay

    Journal: American Journal of Medical Genetics Part A, 188(11), 3306-331
    Year: 2022
    Authors: Wong-Spracklen, V.M.Y., Kolesnik, A., Eck, J. , Sabanthan, S., Spasic-Boskovic, O., Maw, A., BAKER, K.


    Biallelic CACNA1A variants: Review of literature and report of a child with drug-resistant epilepsy and developmental delay.

    Journal: Am J Med Genet A
    E-pub date: 1 Nov 2022
    Authors: VMY Wong-Spracklen, A Kolesnik, J Eck, S Sabanathan, O Spasic-Boskovic, A Maw, K Baker