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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

Cerebellar Infarction: Unusual Manifestation with Facial Palsy, Focal Seizures, and Secondary Generalization
Conclusions: In newborn infants, acute cerebellar stroke may have direct epileptogenic potential.Neonatology 2018;113:33-36
Source: Neonatology - October 25, 2017 Category: Perinatology & Neonatology Source Type: research

Cerebellar Infarction: Unusual Manifestation with Facial Palsy, Focal Seizures, and Secondary Generalization.
CONCLUSIONS: In newborn infants, acute cerebellar stroke may have direct epileptogenic potential. PMID: 28946144 [PubMed - as supplied by publisher]
Source: Neonatology - September 26, 2017 Category: Perinatology & Neonatology Authors: Mühlbacher T, Bohner G, Bührer C, Dame C Tags: Neonatology Source Type: research

Cerebellar Infarction: Unusual Manifestation with Facial Palsy, Focal Seizures, and Secondary Generalization
Conclusions: In newborn infants, acute cerebellar stroke may have direct epileptogenic potential.Neonatology 2018;113:33-36
Source: Neonatology - September 25, 2017 Category: Perinatology & Neonatology Source Type: research