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Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Neurogenetics. 2016 Jan;17(1):11-6. doi: 10.1007/s10048-015-0460-2. Epub 2015 Sep 22.
Neurogenetics. 2016.
PMID: 26395884
Free PMC article.
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.
Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB.
Thaker VV, et al.
J Clin Endocrinol Metab. 2015 May;100(5):1723-30. doi: 10.1210/jc.2014-4215. Epub 2015 Mar 17.
J Clin Endocrinol Metab. 2015.
PMID: 25781356
Free PMC article.
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