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Article

Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology.

European journal of human genetics : EJHG - 1 Feb 2017

Pröschel Christoph, Hansen Jeanne N, Ali Adil, Tuttle Emily, Lacagnina Michelle, Buscaglia Georgia, Halterman Marc W, Paciorkowski Alex R

Abstract excerpt

SIK1 syndrome is a newly described developmental epilepsy disorder caused by heterozygous mutations in the salt-inducible kinase SIK1. To better understand the pathophysiology of SIK1 syndrome, we studied the effects of SIK1 pathogenic sequence variations in human neurons. Primary human fetal cortical neurons were transfected with a lentiviral vector to overexpress wild-type and mutant SIK1 protein. We evaluated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27966542
DOI: 10.1038/ejhg.2016.145
PMCID: PMC5255945

Genes

SIK1
ARC
ARX
NRG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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