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Titel:

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.

Dokumenttyp:
Article; Journal Article
Autor(en):
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
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...     »
Zeitschriftentitel:
Clin Genet
Jahr:
2020
Band / Volume:
98
Heft / Issue:
6
Seitenangaben Beitrag:
571-576
Volltext / DOI:
doi:10.1111/cge.13851
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33009664
Print-ISSN:
0009-9163
TUM Einrichtung:
Institut für Humangenetik
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