Journal Article

DZNE-2020-07152

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.

Park, J. ; Koko, M. ; Hedrich, U. B. S. ; Hermann, A.DZNE* ; Cremer, K. ; Haberlandt, E. ; Grimmel, M. ; Alhaddad, B. ; Beck-Woedl, S. ; Harrer, M. ; Karall, D. ; Kingelhoefer, L.DZNE* ; Tzschach, A. ; Matthies, L. C. ; Strom, T. M. ; Ringelstein, E. B. ; Sturm, M. ; Engels, H. ; Wolff, M. ; Lerche, H. (Corresponding author) ; Haack, T. B.

2019
Wiley Chichester [u.a.]

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Please use a persistent id in citations: doi:10.1002/acn3.50799

Abstract: 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 and generalized tonic-clonic seizures, ataxia, and developmental delay (p.Ala421Val, three patients). Functional analyses demonstrated no measurable currents for all identified variants and dominant-negative effects for p.Thr399Met and p.Ala421Val predicting neuronal disinhibition as the underlying disease mechanism.

Keyword(s): Animals (MeSH) ; Ataxia: genetics (MeSH) ; Child (MeSH) ; Codon, Nonsense (MeSH) ; Genetic Association Studies (MeSH) ; Humans (MeSH) ; Intellectual Disability: genetics (MeSH) ; Male (MeSH) ; Mutation, Missense (MeSH) ; Myoclonic Epilepsies, Progressive (MeSH) ; Seizures: genetics (MeSH) ; Shaw Potassium Channels: genetics (MeSH) ; Shaw Potassium Channels: physiology (MeSH) ; Xenopus laevis (MeSH)

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Contributing Institute(s):

1. Clinical Dementia Research (Rostock /Greifswald) (AG Teipel)
2. Dresden common (Dresden common)

Research Program(s):

1. 344 - Clinical and Health Care Research (POF3-344) (POF3-344)

Appears in the scientific report 2019

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Database coverage:
; ; ; ; Clarivate Analytics Master Journal List ; DOAJ Seal ; Ebsco Academic Search ; IF >= 5 ; JCR ; SCOPUS ; Web of Science Core Collection

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