Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations
Jillian M Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogne, Stephane Bezieau, Edward Blair, Bertrand Isidor, Christiane Zweier, Andre Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, AHM Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Benedicte Heron, Steven Petrou Show all
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | WILEY | Published : 2019
OBJECTIVE: To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy-causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore genotype-phenotype-physiological correlations. METHODS: Ten cases with putative pathogenic variants in KCNC1 were studied. Variants had been identified via whole-exome sequencing or gene panel testing. Clinical phenotypic data were analyzed. To determine functional impact of variants detected in the Kv 3.1 channel encoded by KCNC1, Xenopus laevis oocyte expression system and automated two-electrode voltage clamping were used. RESULTS: Six unrelated patients ha..View full abstract
Related Projects (1)
Awarded by NHMRC
We thank Katherine Helbig for facilitating referral of a case and Karen Oliver for assistance. Supported by an NHMRC Program Grant (ID: 1091593) to Prof Berkovic and Petrou.