3 research outputs found
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Prioritizing Low‐Income Groups and the Environment in Communities with Poor Water Quality
When a community has poor water quality, the U.S. Environmental Protection Agency (EPA) requires it to comply with federal standards in accordance with the Clean Water Act (CWA). The projects required to meet these standards can be very costly, so the EPA allows communities facing these regulations to evaluate their ability to afford them. If the EPA determines that ratepayers in the utility district would face an economic burden by meeting these standards, the community is allowed to extend the schedule for reaching compliance. This prolongs diminished environmental conditions beyond what is usually considered acceptable under the CWA. My research analyzes the benefits and costs when a community uses a schedule extension and I find that schedule extensions ultimately reduce the benefits of the improved water quality through delay. I offer an alternative payment structure based on economic principles that capture the benefits lost by extension and are sensitive to cost burden by income group
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Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
International audiencePurpose:CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy syndrome and long QT syndrome. Several case reports have suggested that CACNA1C variation may also be associated with a primarily neurological phenotype.Methods:We describe 25 individuals from 22 families with heterozygous variants in CACNA1C, who present with predominantly neurological manifestations.Results:Fourteen individuals have de novo, nontruncating variants and present variably with developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy. Functional studies of a subgroup of missense variants via patch clamp experiments demonstrated differential effects on channel function in vitro, including loss of function (p.Leu1408Val), neutral effect (p.Leu614Arg), and gain of function (p.Leu657Phe, p.Leu614Pro). The remaining 11 individuals from eight families have truncating variants in CACNA1C. The majority of these individuals have expressive language deficits, and half have autism.Conclusion:We expand the phenotype associated with CACNA1C variants to include neurodevelopmental abnormalities and epilepsy, in the absence of classic features of Timothy syndrome or long QT syndrome