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Article

Trigeminal Neuralgia in a 12-Month-Old Boy With Dandy-Walker Malformation and Homozygous Pathogenic TOPORS Variant.

American journal of medical genetics. Part A - 1 Sept 2025

Lob K N, Brown W D

Abstract excerpt

A 12-month-old boy with a Dandy-Walker malformation (DWM) presented with a 2-month history of lip chewing and face rubbing such that disfiguring ulcerations were present on his lips and right eye. The persistently frequent but intermittent behaviors during wakefulness lasted minutes at a time numerous times each hour of the day and were associated with pronounced irritability relieved only with sleep. Analgesics...

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Identifiers

PMID: 40358237
DOI: 10.1002/ajmg.a.64117

Genes

TOPORS

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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