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Modélisation computationelle de l'épilepsie avec crises focales migrantes du nourrisson

Abstract : Epilepsy in infancy with migrating focal seizures is characterized by focal seizures beginning before 6 months that intensify to a stormy phase where so-called migrating focal seizures appear. The gain-of-function mutations of the KCNT1 gene are the main causes of this epilepsy. We focused on a cohort of patients with a KCNT1 mutations and this epilepsy to better understand this syndrome in order to model it. First, we specified the clinic for these patients, including long-term poor outcomes, high mortality, microcephaly and the presence of extra-neurological symptoms. Then, we determined, through the study of ictal EEGs, that migrating seizures were not chaotic but rather corresponded to a type of propagation and we have identified specific markers of this epilepsy. Then, we showed that the majority of KCNT1 mutations appeared to cluster in "hot spots" and that there was no strict genotypephenotype correlation. Finally, we modelled this epilepsy at microscopic and mesoscopic levels. Preliminary results showed a decrease in excitation, a fall in inhibition and involvement of depolarizing GABA. We then discuss the different aspects of our work in the light of the literature and describe the perspectives opened by this thesis from a fundamental, clinical and physiological point of views.
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Submitted on : Thursday, June 11, 2020 - 3:58:15 PM
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Mathieu Kuchenbuch. Modélisation computationelle de l'épilepsie avec crises focales migrantes du nourrisson. Médecine humaine et pathologie. Université Rennes 1, 2019. Français. ⟨NNT : 2019REN1B062⟩. ⟨tel-02865260⟩

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