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

KCNC1-related disorders: New de novo variants expand the phenotypic spectrum.

Ann. Clin. Transl. Neurol. 6, 1319-1326 (2019)
Publ. Version/Full Text Research data DOI PMC
Open Access Gold
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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.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Intellectual Disability; Mutations; Epilepsy; Channel; Kcnc1
Language english
Publication Year 2019
HGF-reported in Year 2019
ISSN (print) / ISBN 2328-9503
e-ISSN 2328-9503
Journal Annals of Clinical and Translational Neurology
Quellenangaben Volume: 6, Issue: 7, Pages: 1319-1326 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place Chichester [u.a.]
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
DOI 10.1002/acn3.50799
WOS ID WOS:000476766600016
Scopus ID 85067333136
PubMed ID 31353862
Erfassungsdatum 2019-07-01
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