Ion channelopathies in neurodevelopmental disorders

Ion channelopathies in neurodevelopmental disorders
Theme: Other neurological disorders

Wednesday 26th April, 09:30 – 11:10

Mutations in diverse ion channels are increasingly being found to underlie genetic forms of childhood epilepsies and other neurodevelopmental disorders.  It is important to understand how individual mutations affect the function of the particular channel in order to suggest therapeutic possibilities.

  • Shehrazade Dahimene, University College London, UK: How a point mutation in CACNA2D1, encoding the calcium channel auxiliary subunit α2δ-1, contributes to early-onset developmental epileptic encephalopathy
  • Philippe Lory, Institut de Génomique Fonctionnelle, France: Gain-of-Function mutations in calcium channel genes are an emerging cause of severe neurodevelopmental disorders
  • Florence Riccardi, Centre de Génétique Médicale de Marseille, France: RNA interference-based therapeutic development for KCNQ2-related epileptic and developmental encephalopathies (co-chair)
  • Andrew Penn, University of Sussex, UK: Synaptic dysfunction associated with mutations in GRIN2B: Influence of subunit composition and mutant classification

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