Article
Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.
Acta physiologica (Oxford, England) - 1 May 2022
Liang Lina, Liu Huihui, Bartholdi Deborah, van Haeringen Arie, Fernandez-Jaén Alberto, Peeters Els E A, Xiong Hongbo, Bai Xuemei, Xu Chengqi, Ke Tie, Wang Qing K
Abstract excerpt
AIM: Loss-of-function KCNMA1 variants cause Liang-Wang syndrome (MIM #618729), a newly identified multiple malformation syndrome with a broad spectrum of developmental and neurological phenotypes. However, the full spectrum of clinical features and underlying pathogenic mechanisms need full elucidation. METHODS: Exome sequencing was used to identify pathogenic variants. Patch-clamp recordings were performed to...
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