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Article

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

1 Jul 2019

Abstract excerpt

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: 3.1 channel encoded by KCNC1, Xenopus laevis oocyte expression system and automated two-electrode voltage clamping were...

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PMID: 31353855
DOI: 10.1002/acn3.50822

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