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Article

Novel LAMC3 pathogenic variant enriched in Finnish population causes malformations of cortical development and severe epilepsy.

Epileptic disorders : international epilepsy journal with videotape - 1 Aug 2024

Saarela Anni, Timonen Oskari, Kirjavainen Jarkko, Liu Yawu, Silvennoinen Katri, Mervaala Esa, Kälviäinen Reetta

Abstract excerpt

OBJECTIVE: Recessive LAMC3 mutations are recognized to cause epilepsy with cortical malformations characterized by polymicrogyria and pachygyria. The objective of this study was to describe the clinical picture and epilepsy phenotype of four patients with a previously undescribed LAMC3 variant. METHODS: All epilepsy patients treated in Kuopio Epilepsy Center (located in Kuopio, Finland) are offered the...

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PMID: 38758065
DOI: 10.1002/epd2.20244

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