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| Refractory Seizure with Autosomal Dominant Hypocalcemia with Hypercalciuria with a CASR Mutation Detected Using Whole Exome Sequencing |
| Seong Bae Ahn, Sung Han Shim, Eun-Gyong Yoo, Mo Kyung Jung, Kyu Young Chae |
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Ann Child Neurol. 2021;29(1):47-50. Published online November 11, 2020 DOI: https://doi.org/10.26815/acn.2020.00199 |
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Refractory Seizure with Autosomal Dominant Hypocalcemia with Hypercalciuria with a CASR Mutation Detected Using Whole Exome Sequencing Annals of Child Neurology. 2021;29(1):47-50  Abstract #1246: Asymptomatic Hypocalcemia Secondary to Autosomal Dominant Enhancing Mutation of the Calcium Sensing Protein (CASR) Endocrine Practice. 2015;21:299 The dynamic mutation investigation and whole exome sequencing in a cohort of Chinese autosomal dominant cerebellar ataxia patients . 2020; Abstract #173 Autosomal Dominant Hypocalcemia: A Novel Activating Mutation NM_000388.3(CASR):C.825 T>A P.(ASP 275 GLU) In the Calcium-Sensing Receptor Gene Endocrine Practice. 2019;25:45-46 A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly Clinica Chimica Acta. 2016;459:73-78 Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia Human Mutation. 2000;16(4):281-296 Abstract #1185091: Missense Mutation in the CASR Gene, Unexpected Diagnosis of Autosomal Dominant Hypocalcemia in a Middle Aged Woman Endocrine Practice. 2022;28(5):S98 Autosomal Dominant Hypocalcemia With Atypical Urine Findings Accompanied by Novel CaSR Gene Mutation and VitD Deficiency Journal of the Endocrine Society. 2020;5(3): Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family Seizure. 2017;51:200-203 Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review Journal of International Medical Research. 2022;50(7):030006052211104 |
