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Document type:
Article; Journal Article 
Author(s):
Gold, Nina B; Li, Dong; Chassevent, Anna; Kaiser, Frank J; Parenti, Ilaria; Strom, Tim M; Ramos, Feliciano J; Puisac, Beatriz; Pié, Juan; McWalter, Kirsty; Guillen Sacoto, Maria J; Cui, Hong; Saadeh-Haddad, Reem; Smith-Hicks, Constance; Rodan, Lance; Blair, Edward; Bhoj, Elizabeth 
Title:
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder. 
Abstract:
The gamma-1 isoform of casein kinase 1, the protein encoded by CSNK1G1, is involved in the growth and morphogenesis of cells. This protein is expressed ubiquitously among many tissue types, including the brain, where it regulates the phosphorylation of N-methyl-D-aspartate receptors and plays a role in synaptic transmission. One prior individual with a de novo variant in CSNK1G presenting with severe developmental delay and early-onset epilepsy has been reported. Here we report an updated clinic...    »
 
Journal title abbreviation:
Clin Genet 
Year:
2020 
Journal volume:
98 
Journal issue:
Pages contribution:
571-576 
Fulltext / DOI:
Print-ISSN:
0009-9163 
TUM Institution:
Institut für Humangenetik