cleaned up .bib

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nkoch1 2022-05-16 23:24:04 -04:00
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@ -169,7 +169,7 @@ Ion channels determine neuronal excitability and mutations that alter ion channe
Voltage-gated ion channels are vital in determining neuronal excitability, action potential generation and firing patterns \citep{bernard_channelopathies_2008, carbone_ion_2020}. In particular, the properties and combinations of ion channels and their resulting currents determine the firing properties of the neuron \citep{rutecki_neuronal_1992, pospischil_minimal_2008}. However, ion channel function can be disturbed, resulting in altered ionic current properties and altered neuronal firing behaviour \citep{carbone_ion_2020}. Ion channel mutations are a common cause of such channelopathies and are often associated with hereditary clinical disorders including ataxias, epilepsies, pain disorders, dyskinesias, intellectual disabilities, myotonias, and periodic paralyses among others \citep{bernard_channelopathies_2008, carbone_ion_2020}.
\notenk{Are there any obvious citations missing from the following section?}
The effects of channelopathies on ionic current kinetics are frequently assessed by transfection of heterologous expression systems without endogenous currents \citep{Balestrini1044, Noebels2017, Dunlop2008}, and are frequently classified as either a loss of function (LOF) or a gain of function (GOF) with respect to changes in the amount of ionic current \citep{Musto2020, Kullmann2002, Waxman2011}. \notenk{Do you think we need to discuss LOF and GOF more than this?} \notels{LOF and GOF are usually not explained in detail, I would think it's fine} This classification can be used to make rough estimates of the effects on neuronal firing \textcolor{red}{(papers?)}, which in turn is important for understanding the pathophysiology of these disorders and for identification of potential therapeutic targets \citep{Orsini2018, Yang2018}. Experimentally, the effects of channelopathies on neuronal firing can be assessed using primary neuronal cultures \citep{Scalmani2006, Smith2018, Liu2019} or \textit{in vitro} recordings from transgenic mouse lines \citep{Mantegazza2019, Xie2010,Lory2020, Habib2015, Hedrich2019}.
The effects of channelopathies on ionic current kinetics are frequently assessed by transfection of heterologous expression systems without endogenous currents \citep{Balestrini1044, Noebels2017, Dunlop2008}, and are frequently classified as either a loss of function (LOF) or a gain of function (GOF) with respect to changes in the amount of ionic current \citep{Musto2020, Kullmann2002, Waxman2011, Kim2021}. \notenk{Do you think we need to discuss LOF and GOF more than this?} \notels{LOF and GOF are usually not explained in detail, I would think it's fine} This classification can be used to make rough estimates of the effects on neuronal firing \textcolor{red}{(papers?\citep{Niday2018, Wei2017}?)}, which in turn is important for understanding the pathophysiology of these disorders and for identification of potential therapeutic targets \citep{Orsini2018, Yang2018}. Experimentally, the effects of channelopathies on neuronal firing can be assessed using primary neuronal cultures \citep{Scalmani2006, Smith2018, Liu2019} or \textit{in vitro} recordings from transgenic mouse lines \citep{Mantegazza2019, Xie2010,Lory2020, Habib2015, Hedrich2019}.
%However the effect of a given channelopathy on different neuronal types across the brain is often unclear and not feasible to experimentally obtain. This is especially true when large numbers of distinct mutations are present and personalized medicine approaches are desired.
@ -408,7 +408,7 @@ Accordingly, for accurate modelling and predictions of the effects of mutations
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