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Objectives
Focal cortical dysplasias (FCDs) are local malformations of the human neocortex and a leading cause of medically intractable epilepsy. FCDs are characterized by local architectural disturbances of the neocortex and often by a blurred gray‐white matter boundary indicating abnormal white matter myelination. We have recently shown that myelination is also compromised in the gray matter of...
We identified SCN1A variants in 2 infants who died of sudden infant death syndrome (SIDS) with hippocampal abnormalities from an exome sequencing study of 10 cases of SIDS but no history of seizures. One harbored SCN1A G682V, and the other had 2 SCN1A variants in cis: L1296M and E1308D, a variant previously associated with epilepsy. Functional evaluation in a heterologous expression system demonstrated...
Objective
Focal cortical dysplasia (FCD) is a major cause of pharmacoresistant focal epilepsy. Little is known about the pathomechanisms underlying the characteristic cytoarchitectural abnormalities associated with FCD. In the present study, a broad panel of markers identifying layer‐specific neuron subpopulations was applied to characterize dyslamination and structural alterations in FCD with balloon...
Das MELAS-Syndrom ist eine Erkrankung, die durch eine Störung der Energiebereitstellung innerhalb der Mitochondrien ausgelöst wird. Ursache dieses Syndroms ist eine Mutation der mitochondrialen DNA; mit einer Prävalenz von 18,4/100.000 in 80 % der Fälle liegt hierbei eine A-zu-G-Mutation im Nukleotid 3243 vor. Überwiegend betroffen sind Organsysteme mit einem hohen Energiestoffwechsel, wie Herz, Gehirn...
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