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Article

Cowden Syndrome with a Novel PTEN Mutation Presenting with Partial Epilepsy Related to Focal Cortical Dysplasia.

Internal medicine (Tokyo, Japan) - 1 Jan 2018

Adachi Tadashi, Takigawa Hiroshi, Nomura Takashi, Watanabe Yasuhiro, Kowa Hisanori

Abstract excerpt

Cowden syndrome is a rare autosomal dominant disorder characterized by multiple hamartomas of the ectoderm and brain. A 36-year-old Japanese man presented with right facial seizure during sleep and was admitted to our hospital. He showed cobblestoning over the tongue and palmar pitting but no neurological abnormalities while he was not having a seizure. Brain magnetic resonance imaging showed focal cortical...

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Source

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Identifiers

PMID: 29033429
DOI: 10.2169/internalmedicine.9052-17
PMCID: PMC5799065

Genes

PTEN

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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