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Title:

A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder.

Document type:
Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Zech, Michael; Lam, Daniel D; Weber, Sandrina; Berutti, Riccardo; Poláková, Kamila; Havránková, Petra; Fečíková, Anna; Strom, Tim M; Ruzicka, Evzen; Jech, Robert; Winkelmann, Juliane
Abstract:
Calcium/calmodulin-dependent protein kinases (CaMKs) are key mediators of calcium signaling and underpin neuronal health. Although widely studied, the contribution of CaMKs to Mendelian disease is rather enigmatic. Here, we describe an unusual neurodevelopmental phenotype, characterized by milestone delay, intellectual disability, autism, ataxia, and mixed hyperkinetic movement disorder including severe generalized dystonia, in a proband who remained etiologically undiagnosed despite exhaustive...     »
Journal title abbreviation:
Cold Spring Harb Mol Case Stud
Year:
2018
Journal volume:
4
Journal issue:
6
Fulltext / DOI:
doi:10.1101/mcs.a003293
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/30262571
TUM Institution:
Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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