Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.

doi:10.1080/01677063.2021.1892095

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Article

Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.

Journal of neurogenetics - 1 Jan 2000

Burke Elizabeth A, Sturgeon Morgan, Zastrow Diane B, Fernandez Liliana, Prybol Cameron, Marwaha Shruti, Frothingham Edward P, Ward Patricia A, Eng Christine M, Fresard Laure, Montgomery Stephen B, Enns Gregory M, Fisher Paul G, Wolfe Lynne A, Harding Brian, Carrington Blake, Bishop Kevin, Sood Raman, Huang Yan, Elkahloun Abdel, Toro Camilo, Bassuk Alexander G, Wheeler Matthew T, Markello Thomas C, Gahl William A, Malicdan May Christine V

Abstract excerpt

KCTD7 is a member of the potassium channel tetramerization domain-containing protein family and has been associated with progressive myoclonic epilepsy (PME), characterized by myoclonus, epilepsy, and neurological deterioration. Here we report four affected individuals from two unrelated families in which we identified KCTD7 compound heterozygous single nucleotide variants through exome sequencing. RNAseq was...

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PMID: 33970744
DOI: 10.1080/01677063.2021.1892095

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