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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)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Intellectual Disability; Mutations; Epilepsy; Channel; Kcnc1
ISSN (print) / ISBN 2328-9503
e-ISSN 2328-9503
Zeitschrift Annals of Clinical and Translational Neurology
Quellenangaben Band: 6, Heft: 7, Seiten: 1319-1326 Artikelnummer: , Supplement: ,
Verlag Wiley
Verlagsort Chichester [u.a.]
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)