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Article

In Vitro Models of Sturge-Weber Syndrome: Strengths, Limitations, and Future Goals.

International journal of molecular sciences - 3 May 2026

Manney Ashleigh B, Nemeth Christina L, Comi Anne M

Abstract excerpt

Sturge-Weber Syndrome (SWS) is a rare congenital disorder presenting with a vascular malformation in the upper face and brain, causing impaired blood-brain barrier function and perfusion, increased calcium signaling, inflammation, and seizures. All these neuropathologic processes result in injury to the brain. The somatic GNAQ R183Q variant, which accounts for the majority of SWS cases, increases signaling...

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Share to GNAQ gene
Share to GTP-Binding Protein alpha Subunits, Gq-G11

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Identifiers

PMID: 42123678
DOI: 10.3390/ijms27094100
PMCID: PMC13163291

Genes

GNAQ

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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