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Article

A CLN8 biallelic missense variant causes epilepsy with severe treatment-resistant psychosis.

Molecular genetics and genomics : MGG - 30 Jun 2026

Zulfiqar Rimsha, Kanwal Ambreen, Hameed Maham, Iftikhar Amina, Seo Go Hun, Naz Sadaf

Abstract excerpt

Epilepsy and psychosis are dysfunctions of the nervous system that may occasionally co-occur. The current study was designed to investigate the causes of psychosis with or without epilepsy in Pakistani families. We identified two consanguineous families in which all affected members had treatment-resistant psychosis while three patients also had epilepsy. Every participant was examined by psychiatrists and a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42377569
DOI: 10.1007/s00438-026-02480-6

Genes

CLN8

Variants

Provenance

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

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