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The Outcome of Status Epilepticus and Long-Term Follow-Up
Conclusion: This study highlights the importance of regular care and patient follow-up. Introduction Status epilepticus (SE) is a condition and most extreme form of epilepsy (1), which leads to abnormal and prolonged seizure (at least 5 min). In case SE persists over 30 min, it may have severe long-term consequences (2). Referring to the new classification scheme of SE, there are two operational dimensions of the definition: time point 1 (T1) is associated with abnormally prolonged seizure, when therapy should be initiated, while time point 2 (T2) is related to the time of on-going seizure activity involving a risk...
Source: Frontiers in Neurology - April 25, 2019 Category: Neurology Source Type: research

A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T > C Mutation in the Mitochondrial MTND3 Gene
Conclusion The m.10191T>C mutation in the mtDNA of the complex I (CI) subunit of MTND3 results in the substitution of a highly conserved amino acid (p.Ser45Pro) within the ND3 protein, leading to CI dysfunction through impaired enzyme catalysis rather than impaired stability or assembly, causing a broad clinical spectrum of disorders (26). Patients with the m.10191T>C mutation are rare. In the present study, we report on a family of patients with the extremely rare adult-onset Leigh-like syndrome with the m.10191T>C mutation. Including the two patients from our reported family, the m.10191T...
Source: Frontiers in Neurology - April 17, 2019 Category: Neurology Source Type: research