Laurent Cimasoni

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Phosphatidylinositol-4,5-bisphosphate [PtdIns(4,5)P(2)] is a signaling phospholipid implicated in a wide variety of cellular functions. At synapses, where normal PtdIns(4,5)P(2) balance is required for proper neurotransmission, the phosphoinositide phosphatase synaptojanin 1 is a key regulator of its metabolism. The underlying gene, SYNJ1, maps to human(More)
OBJECTIVE To increase the recognition of glutamic acid decarboxylase autoantibodies-related encephalitis in childhood. DESIGN Case report and review of the literature. PATIENT A 6-year-old girl who had developed refractory seizures, developmental regression, and type 1 diabetes mellitus at age 25 months. INTERVENTIONS Blood analysis,(More)
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