期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 98, 期 1, 页码 210-215出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2015.11.013
关键词
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资金
- King Abdulaziz City for Science and Technology (KACST) grant [13-BIO1113-20]
- King Salman Center for Disability Research grant
Brain channelopathies represent a growing class of brain disorders that usually result in paroxysmal disorders, although their role in other neurological phenotypes, including the recently described NALCN-related infantile encephalopathy, is increasingly recognized. In three Saudi Arabian families and one Egyptian family all affected by a remarkably similar phenotype (infantile encephalopathy and largely normal brain MRI) to that of NALCN-related infantile encephalopathy, we identified a locus on 2q34 in which whole-exome sequencing revealed three, including two apparently loss-of-function, recessive mutations in UNC80. UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex. Our results expand the clinical relevance of the UNC79-UNC80-NALCN channel complex.
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