KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.
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ABSTRACT:
SUBMITTER: Park J
PROVIDER: S-EPMC6649617 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
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KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.
Park Joohyun J Koko Mahmoud M Hedrich Ulrike B S UBS Hermann Andreas A Cremer Kirsten K Haberlandt Edda E Grimmel Mona M Alhaddad Bader B Beck-Woedl Stefanie S Harrer Merle M Karall Daniela D Kingelhoefer Lisa L Tzschach Andreas A Matthies Lars C LC Strom Tim M TM Ringelstein Erich Bernd EB Sturm Marc M Engels Hartmut H Wolff Markus M Lerche Holger H Haack Tobias B TB
Annals of clinical and translational neurology 20190607 7
A recurrent de novo missense variant in KCNC1, encoding a voltage-gated potassium channel expressed in inhibitory neurons, causes progressive myoclonus epilepsy and ataxia, and a nonsense variant is associated with intellectual disability. We identified three new de novo missense variants in KCNC1 in five unrelated individuals causing different phenotypes featuring either isolated nonprogressive myoclonus (p.Cys208Tyr), intellectual disability (p.Thr399Met), or epilepsy with myoclonic, absence a ...[more]
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