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Article

De novo mutations in SIK1 cause a spectrum of developmental epilepsies.

American journal of human genetics - 2 Apr 2015

Hansen Jeanne, Snow Chelsi, Tuttle Emily, Ghoneim Dalia H, Yang Chun-Song, Spencer Adam, Gunter Sonya A, Smyser Christopher D, Gurnett Christina A, Shinawi Marwan, Dobyns William B, Wheless James, Halterman Marc W, Jansen Laura A, Paschal Bryce M, Paciorkowski Alex R

Abstract excerpt

Developmental epilepsies are age-dependent seizure disorders for which genetic causes have been increasingly identified. Here we report six unrelated individuals with mutations in salt-inducible kinase 1 (SIK1) in a series of 101 persons with early myoclonic encephalopathy, Ohtahara syndrome, and infantile spasms. Individuals with SIK1 mutations had short survival in cases with neonatal epilepsy onset, and an...

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Identifiers

PMID: 25839329
DOI: 10.1016/j.ajhg.2015.02.013
PMCID: PMC4385182

Genes

SIK1
HDAC5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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