Chris Panzeri

TL;DR: The KCNQ2 K526N mutation may affect M-channel function by disrupting the complex biochemical signaling involving KCNZ2 C-terminus, which limits neuronal hyperexcitability by causing spike-frequency adaptation.

TL;DR: It is shown that mitochondrial elongation is required for myogenesis to occur and that this event depends on the cellular generation of nitric oxide (NO), and that these effects of NO inhibition were not observed in myogenic precursor cells containing a dominant-negative form of Drp1.

TL;DR: The results provide the first demonstration that a missense mutation in alsin is cytotoxic, and the identification of Bcl-xL/Bax as target of protection by alsin and of cytotoxicity by the mutant form provides a new signalling event regulated by al sin that may be important to define its role in neuronal physiology and neurodegeneration.

TL;DR: Sequence analysis of the deletion breakpoint, together with secondary structure predictions of the deleted region, indicate that a complex rearrangement, likely caused by extensive secondary structure formation mediated by the short interspersed nuclear element (SINE) retrotransposons, is responsible for the deletion event.

TL;DR: The results confirm the role of the SCN1A gene in different types of epilepsy, including cryptogenic epileptic syndromes, however, large deletions encompassing SCN 1A were not common disease-causing rearrangements in this group of epilepsies.