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Article

Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.

PloS one - 1 Jan 2015

Inoue Emiko, Watanabe Yuichiro, Xing Jingrui, Kushima Itaru, Egawa Jun, Okuda Shujiro, Hoya Satoshi, Okada Takashi, Uno Yota, Ishizuka Kanako, Sugimoto Atsunori, Igeta Hirofumi, Nunokawa Ayako, Sugiyama Toshiro, Ozaki Norio, Someya Toshiyuki

Abstract excerpt

Rare variations contribute substantially to autism spectrum disorder (ASD) liability. We recently performed whole-exome sequencing in two families with affected siblings and then carried out a follow-up study and identified ceroid-lipofuscinosis neuronal 8 (epilepsy, progressive with mental retardation) (CLN8) as a potential genetic risk factor for ASD. To further investigate the role of CLN8 in the genetic...

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Source

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Identifiers

PMID: 26657971
DOI: 10.1371/journal.pone.0144624
PMCID: PMC4682829

Genes

CLN8

Variants

rs201670636

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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