Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel mutation of the CLN8 gene: is there a Mediterranean phenotype?

Pediatric neurology - 1 Jun 2007

Zelnik Nathanel, Mahajna Muhammad, Iancu Theodore C, Sharony Reuven, Zeigler Marsha

Abstract excerpt

We report the first known case in Israel of a patient with an early childhood onset of ceroid-lipofuscinosis who is homozygous to a mutation of the CLN8 gene. This patient further expands the clinical varieties of CLN8, initially reported in Finland and Turkey and recently in Italy. The ultrastru...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Epithelial Cells
Share to Homozygote
Share to Israel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mediterranean Region

Share to Membrane Proteins

Share to Microscopy, Electron

Share to Mutation, Missense

Share to Neuronal Ceroid-Lipofuscinoses

Source

Identifiers

PMID: 17560505
DOI: 10.1016/j.pediatrneurol.2007.01.008

Genes

CLN8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17560505-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation of the CLN8 gene: is there a Mediterranean phenotype?PMID 17560505Read ↗

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.Semantic proximity Read ↗

Novel <i>CLN8</i> mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosisSemantic proximity Read ↗

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.Semantic proximity Read ↗

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation.Semantic proximity Read ↗

CLN6 disease caused by the same mutation originating in Pakistan has varying pathology.Semantic proximity Read ↗

[Clinical, genetic and pathological features of neuronal ceroid lipofuscinosis in 5 Chinese patients].Semantic proximity Read ↗

Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.Semantic proximity Read ↗

Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.Semantic proximity Read ↗

Clinical and genetic characterization of Neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: Identification of 11 novel mutationsSemantic proximity Read ↗

Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.