Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
Burke EA, Sturgeon M, Zastrow DB, Fernandez L, Prybol C, Marwaha S, Frothingham EP, Ward PA, Eng CM, Fresard L, Montgomery SB, Enns GM, Fisher PG, Wolfe LA, Harding B, Carrington B, Bishop K, Sood R, Huang Y, Elkahloun A, Toro C, Bassuk AG, Wheeler MT, Markello TC, Gahl WA, Malicdan MCV.
Burke EA, et al.
J Neurogenet. 2021 Mar-Jun;35(2):74-83. doi: 10.1080/01677063.2021.1892095. Epub 2021 May 10.
J Neurogenet. 2021.
PMID: 33970744
Here we report four affected individuals from two unrelated families in which we identified KCTD7 compound heterozygous single nucleotide variants through exome sequencing. ...To gain further insight into the pathogenesis of the disorder, zinc finger nucleases were used to …
Here we report four affected individuals from two unrelated families in which we identified KCTD7 compound heterozygous single nucleo …