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Article

The role of DHH motifs in PRUNE1 gene on ion channels: A new insight into epilepsy pathogenesis.

Epilepsy research - 1 Jun 2026

Günay Çağatay, Yılmazbilek İrem, Soydemir Didem, Sarıkaya Uzan Gamze, Özsoy Özlem, Yeşilmen Mehmet Can, Guliyeva Ulviyya, Polat Kalafatçılar İpek, Yiş Uluç, Hız Kurul Semra, Karaca Ezgi

Abstract excerpt

INTRODUCTION: PRUNE1-related disorders present diverse neurological manifestations, including developmental delay, congenital brain malformations, and epilepsy. Despite their frequency and often refractory nature, PRUNE1-related seizures have received insufficient attention. METHODS: Five Turkish patients carrying the homozygous c.316G>A (p.Asp106Asn) variant in the PRUNE1 gene were evaluated through...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41980489
DOI: 10.1016/j.eplepsyres.2026.107798

Genes

PRUNE1
DHH

Variants

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

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