Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

Abstract 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 T...

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Bibliographic Details
Main Authors: Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A. H. M. Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:Annals of Clinical and Translational Neurology
Subjects:
Encephalopathy
epilepsy
KCNC1
Online Access:https://doi.org/10.1002/acn3.50822

Internet

https://doi.org/10.1002/acn3.50822

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